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1. Cardiofaciocutaneous Syndrome

GeneReviews((R))-/- 1993; ():

*20301365*
                       20301365

2. Clinical factors in prosthodontic treatment of children with genetic defects.

Adv Clin Exp Med 2017; 26 (6): 1005-1012

*29068604*
                       29068604

PMC4275383 3. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.

Am J Med Genet A 2015; 167A (1): 1-10

*25393061*
                       25393061

PMC4515140 4. The third international meeting on genetic disorders in the RAS/MAPK pathway: towards a therapeutic approach.

Am J Med Genet A 2015; 167A (8): 1741-6

*25900621*
                       25900621

PMC4115793 5. Craniofacial and dental development in Costello syndrome.

Am J Med Genet A 2014; 164A (6): 1425-30

*24668879*
                       24668879

PMC3085983 6. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

Am J Med Genet A 2010; 152A (3): 591-600 eipierpont@wisc.edu

*20186801*
                       20186801

PMC4051786 7. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

Am J Med Genet A 2010; 152A (1): 4-24 rauenk@peds.ucsf.edu

*20014119*
                       20014119

PMC4180666 8. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Am J Med Genet A 2010; 152A (4): 807-14 rauenk@peds.ucsf.edu

*20358587*
                       20358587

PMC6039190 9. RASopathies are associated with a distinct personality profile.

Am J Med Genet B Neuropsychiatr Genet 2018; 177 (4): 434-446

*29659143*
                       29659143

PMC3086183 10. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

Am J Med Genet C Semin Med Genet 2011; 157C (2): 83-9 kratzcp@mail.nih.gov

*21500339*
                       21500339

PMC3086095 11. Cardio-facio-cutaneous syndrome: does genotype predict phenotype?

Am J Med Genet C Semin Med Genet 2011; 157C (2): 129-35 allanson@cheo.on.ca

*21495173*
                       21495173

PMC4145816 12. Costello and cardio-facio-cutaneous syndromes: Moving toward clinical trials in RASopathies.

Am J Med Genet C Semin Med Genet 2011; 157C (2): 136-46 rauenk@peds.ucsf.edu

*21495172*
                       21495172

13. Woolly hair generalizado: caso clinico e revisao da literatura.

An Bras Dermatol 2010; 85 (1): 97-100 tiagotorres2002@hotmail.com

*20464096*
                       20464096

14. New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

Ann Hum Genet 2016; 80 (1): 50-62

*26607044*
                       26607044

PMC4115674 15. The RASopathies.

Annu Rev Genomics Hum Genet 2013; 14 (): 355-69 rauenk@peds.ucsf.edu.

*23875798*
                       23875798

PMC5206377 16. Noonan syndrome - a new survey.

Arch Med Sci 2017; 13 (1): 215-222

*28144274*
                       28144274

PMC3058199 17. Noonan syndrome and clinically related disorders.

Best Pract Res Clin Endocrinol Metab 2011; 25 (1): 161-79 mtartaglia@iss.it

*21396583*
                       21396583

PMC3625975 18. Human CoQ10 deficiencies.

Biofactors 2008; 32 (1-4): 113-8

*19096106*
                       19096106

PMC3915031 19. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

BMC Med Genet 2014; 15 (): 14 francescaromana.lepri@opbg.net.

*24451042*
                       24451042

PMC5663114 20. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

BMC Med Genomics 2017; 10 (1): 62 gu_xuefan@163.com.;

*29084544*
                       29084544

PMC4407356 21. PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

BMC Neurol 2015; 15 (): 55 marianna.spatola@chuv.ch.;

*25884655*
                       25884655

PMC4402457 22. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Br J Cancer 2015; 112 (8): 1392-7

*25742478*
                       25742478

PMC4063554 23. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

Br J Dermatol 2012; 166 (3): 601-7 dsiegel@mcw.edu

*22098123*
                       22098123

PMC4063552 24. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome.

Br J Dermatol 2011; 164 (3): 521-9 dsiegel@mcw.edu

*21062266*
                       21062266

PMC3398258 25. MEK genomics in development and disease.

Brief Funct Genomics 2012; 11 (4): 300-10

*22753777*
                       22753777

26. The roles of MAPKs in disease.

Cell Res 2008; 18 (4): 436-42

  • MAPK
  • *18347614*
                           18347614

    PMC3000393 27. Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.

    Clin Dysmorphol 2011; 20 (1): 15-20

    *21084979*
                           21084979

    PMC4480871 28. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

    Clin Genet 2014; 85 (2): 138-46

    *23379592*
                           23379592

    PMC4115672 29. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis.

    Clin Genet 2013; 83 (6): 539-44

    *22946697*
                           22946697

    PMC3246507 30. Bone resorption in syndromes of the Ras/MAPK pathway.

    Clin Genet 2011; 80 (6): 566-73 david.stevenson@hsc.utah.edu

    *21204800*
                           21204800

    PMC5847490 31. Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

    Data Brief 2018; 16 (): 649-654

    *29541661*
                           29541661

    32. Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.

    Dev Med Child Neurol 2017; 59 (5): 544-549

    *28160302*
                           28160302

    33. Neurological complications of cardio-facio-cutaneous syndrome.

    Dev Med Child Neurol 2007; 49 (12): 894-9 grace.yoon@utoronto.ca

    *18039235*
                           18039235

    34. The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

    Dev Period Med 2014; 18 (3): 285-96 natalia.bezniakow@imid.med.pl.

    *25182392*
                           25182392

    PMC5897723 35. Mek1(Y130C) mice recapitulate aspects of human cardio-facio-cutaneous syndrome.

    Dis Model Mech 2018; 11 (3): jean.charron@crhdq.ulaval.ca.;

    *29590634*
                           29590634

    PMC3380717 36. Continual low-level MEK inhibition ameliorates cardio-facio-cutaneous phenotypes in zebrafish.

    Dis Model Mech 2012; 5 (4): 546-52

    *22301711*
                           22301711

    PMC5520077 37. Genotype and phenotype spectrum of NRAS germline variants.

    Eur J Hum Genet 2017; 25 (7): 823-831

    *28594414*
                           28594414

    PMC4930084 38. The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.

    Eur J Hum Genet 2016; 24 (5): 690-6

    *26242988*
                           26242988

    PMC4326724 39. Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

    Eur J Hum Genet 2015; 23 (3): 347-53

    *24896146*
                           24896146

    PMC2947095 40. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.

    Eur J Hum Genet 2009; 17 (6): 733-40

  • KRAS
  • BRAF
  • Cardio facio cutaneous syndrome
  • MAP2K1
  • MAP2K2
  • *19156172*
                           19156172

    PMC2986220 41. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Eur J Hum Genet 2009; 17 (4): 420-5

    *18854871*
                           18854871

    42. PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

    Eur J Hum Genet 2003; 11 (1): 85-8

    *12529711*
                           12529711

    43. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

    Eur J Hum Genet 2003; 11 (2): 201-6

    *12634870*
                           12634870

    44. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family.

    Eur J Hum Genet 1998; 6 (1): 32-7

    *9781012*
                           9781012

    PMC6465419 45. A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

    Front Physiol 2019; 10 (): 388

    *31024343*
                           31024343

    PMC5393050 46. BRaf signaling principles unveiled by large-scale human mutation analysis with a rapid lentivirus-based gene replacement method.

    Genes Dev 2017; 31 (6): 537-552

    *28404629*
                           28404629

    PMC5088687 47. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

    Genome Med 2016; 8 (1): 105 Alexandre.Reymond@unil.ch.

    *27799067*
                           27799067

    48. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

    Horm Res 2009; 71 (4): 185-93 alexj@usp.br

    *19258709*
                           19258709

    PMC2701326 49. Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

    Hum Mol Genet 2009; 18 (14): 2543-54

    *19376813*
                           19376813

    PMC3117284 50. Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

    Hum Mutat 2011; 32 (1): 33-43

    *20949621*
                           20949621

    PMC3401850 51. Cardiofaciocutaneous syndrome: a rare entity.

    Indian J Dermatol 2012; 57 (4): 299-301 docpavithra@gmail.com

    *22837569*
                           22837569

    PMC3276995 52. Ross operation in a neuro-cardio-facial-cutaneous syndrome patient.

    Indian J Hum Genet 2011; 17 (3): 229-31

    *22345998*
                           22345998

    PMC6514701 53. The ERK MAPK Pathway Is Essential for Skeletal Development and Homeostasis.

    Int J Mol Sci 2019; 20 (8): JungMin.Kim@umassmed.edu.;

    *31013682*
                           31013682

    PMC5751194 54. Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

    Int J Mol Sci 2017; 18 (12): alice_choi@kaist.ac.kr.;

    *29194391*
                           29194391

    PMC4926485 55. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

    Int J Mol Sci 2016; 17 (6): mafalda.mucciolo@artemisia.it.;

    *27322245*
                           27322245

    PMC4006518 56. A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.

    Iran J Pediatr 2013; 23 (5): 608-9

    *24800029*
                           24800029

    57. Intralesional cryosurgery for the treatment of severe stoma hypergranulation following percutaneous endoscopic gastrostomy.

    Isr Med Assoc J 2015; 17 (4): 251-2

    *26040055*
                           26040055

    PMC5198416 58. Cardiofaciocutaneous Syndrome: Case Report of a Rare Disorder.

    J Clin Diagn Res 2016; 10 (11): SD01-SD02

    *28050463*
                           28050463

    PMC3986741 59. Cardio-facio-cutaneous syndrome with precocious puberty, growth hormone deficiency and hyperprolactinemia.

    J Clin Res Pediatr Endocrinol 2014; 6 (1): 55-8 celiknurullah@hotmail.com.

    *24637312*
                           24637312

    PMC4230531 60. Autism traits in the RASopathies.

    J Med Genet 2014; 51 (1): 10-20

    *24101678*
                           24101678

    PMC2597961 61. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

    J Med Genet 2007; 44 (10): 651-6

    *17586837*
                           17586837

    PMC2598066 62. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

    J Med Genet 2007; 44 (2): 131-5

    *17056636*
                           17056636

    PMC2563180 63. The cardiofaciocutaneous syndrome.

    J Med Genet 2006; 43 (11): 833-42

  • Cardiofaciocutaneous syndrome
  • *16825433*
                           16825433

    PMC1734231 64. Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome.

    J Med Genet 1999; 36 (10): 799-800

    *10528867*
                           10528867

    PMC1015998 65. Cardiofaciocutaneous syndrome with new ectodermal manifestations.

    J Med Genet 1992; 29 (6): 428-9

    *1619641*
                           1619641

    66. Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.

    J Nippon Med Sch 2016; 83 (4): 167-71

    *27680485*
                           27680485

    PMC3862561 67. Cardiofaciocutaneous syndrome.

    Med J Armed Forces India 2013; 69 (2): 175-7

    *24600094*
                           24600094

    PMC2169154 68. Biochemical and functional characterization of germ line KRAS mutations.

    Mol Cell Biol 2007; 27 (22): 7765-70

    *17875937*
                           17875937

    PMC5962360 69. Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.

    Mol Psychiatry 2018; 23 (8): 1687-1698 lauren.weiss@ucsf.edu.;

    *29158583*
                           29158583

    PMC4188152 70. Clinical and Molecular Findings of Tunisian Patients with RASopathies.

    Mol Syndromol 2014; 5 (5): 212-7

    *25337068*
                           25337068

    PMC3711482 71. Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

    Mol Syndromol 2013; 4 (5): 227-34

    *23885229*
                           23885229

    PMC3214957 72. RASopathies: Clinical Diagnosis in the First Year of Life.

    Mol Syndromol 2011; 1 (6): 282-289

    *22190897*
                           22190897

    PMC2858523 73. Noonan syndrome: clinical aspects and molecular pathogenesis.

    Mol Syndromol 2010; 1 (1): 2-26

    *20648242*
                           20648242

    PMC4297285 74. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

    Nat Genet 2010; 42 (9): 794-800

    *20694012*
                           20694012

    PMC3119507 75. Ras and Rap signaling in synaptic plasticity and mental disorders.

    Neuroscientist 2011; 17 (1): 54-78

    *20431046*
                           20431046

    PMC5942188 76. A review of craniofacial and dental findings of the RASopathies.

    Orthod Craniofac Res 2017; 20 Suppl 1 (): 32-38

    *28643916*
                           28643916

    77. RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?

    Pediatrics 2016; 138 (6): d.vanderkaay@hagaziekenhuis.nl.;

    *27940666*
                           27940666

    PMC4179092 78. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

    Pediatrics 2014; 134 (4): e1149-62 pierp001@umn.edu.;

    *25180280*
                           25180280

    PMC4718533 79. Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

    PLoS One 2016; 11 (1): e0146697

    *26784941*
                           26784941

    PMC3178550 80. Erk1 positively regulates osteoclast differentiation and bone resorptive activity.

    PLoS One 2011; 6 (9): e24780

    *21961044*
                           21961044

    PMC5167168 81. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.

    Proc Natl Acad Sci U S A 2016; 113 (50): E8159-E8168 rossachiu@cuhk.edu.hk

    *27799561*
                           27799561

    PMC3064394 82. Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome.

    Proc Natl Acad Sci U S A 2011; 108 (12): 5015-20

    *21383153*
                           21383153

    PMC4568836 83. Cardiomyopathies in Noonan syndrome and the other RASopathies.

    Prog Pediatr Cardiol 2015; 39 (1): 13-19

    *26380542*
                           26380542

    PMC1894828 84. Noonan syndrome and related disorders: alterations in growth and puberty.

    Rev Endocr Metab Disord 2006; 7 (4): 251-5 jnoonan@uky.edu

  • Noonan s syndrome
  • *17177115*
                           17177115

    85. Actualizacion del tratamiento de las rasopatias.

    Rev Neurol 2017; 64 (s03): S13-S17

    *28524213*
                           28524213

    PMC4486731 86. BRAF gene: From human cancers to developmental syndromes.

    Saudi J Biol Sci 2015; 22 (4): 359-73

    *26150740*
                           26150740

    PMC5799236 87. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

    Sci Rep 2018; 8 (1): 2421 dr.ivanlo@gmail.com.;

    *29402968*
                           29402968

    88. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

    Science 2006; 311 (5765): 1287-90

    *16439621*
                           16439621

    89. Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

    Seizure 2012; 21 (1): 55-60 ama-p@rc4.so-net.ne.jp

    *21871821*
                           21871821

    PMC5032183 90. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.

    Stem Cell Reports 2016; 7 (3): 355-369 bruce.gelb@mssm.edu.

    *27569062*
                           27569062

    91. Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-iPSCs.

    Stem Cells 2015; 33 (5): 1447-55

    *25639853*
                           25639853

    92. Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien.

    Tidsskr Nor Laegeforen 2009; 129 (22): 2358-61 anders.molven@gades.uib.no

    *19935936*
                           19935936

    Beyond PubMed : called unfree



    93. Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome.

    A A Case Rep 2015; 4 (7): 95-6

    *25827862*
                           25827862

    94. Rasopatias: trastornos del desarrollo con predisposicion al cancer y manifestaciones cutaneas.

    Actas Dermosifiliogr 2011; 102 (6): 402-16 hnj@yahoo.es

    *21536246*
                           21536246

    95. Emergence of a Genetic Diagnosis: Case Presentation of a Preterm Infant With Cardiofaciocutaneous Syndrome.

    Adv Neonatal Care 2015; 15 (4): 274-84

    *26225596*
                           26225596

    96. CFC index for the diagnosis of cardiofaciocutaneous syndrome.

    Am J Med Genet 2002; 112 (1): 12-6 kavamura@uol.com.br

    *12239713*
                           12239713

    97. Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?

    Am J Med Genet 2002; 110 (1): 51-6 rauen@itsa.ucsf.edu

    *12116271*
                           12116271

    98. Candidate region for cardio-facio-cutaneous syndrome.

    Am J Med Genet 2001; 101 (2): 173; author reply 172

    *11391663*
                           11391663

    99. Heterogeneity of cardio-facio-cutaneous syndrome.

    Am J Med Genet 2000; 95 (2): 144

    *11078564*
                           11078564

    100. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

    Am J Med Genet 2000; 95 (2): 135-43 Tgrebe@POL.net

    *11078563*
                           11078563

    101. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.

    Am J Med Genet 2000; 93 (3): 219-22

    *10925386*
                           10925386

    102. Intestinal malrotation in a child with cardio-facio-cutaneous syndrome.

    Am J Med Genet 1997; 70 (3): 284-6

    *9188667*
                           9188667

    103. Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?

    Am J Med Genet 1996; 65 (2): 97-9

    *8911596*
                           8911596

    104. Cardio-facio-cutaneous syndrome: three additional cases and review of the literature.

    Am J Med Genet 1992; 44 (5): 691-5

    *1481834*
                           1481834

    105. The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?

    Am J Med Genet 1991; 38 (4): 548-51

    *2063896*
                           2063896

    106. A case of cardio-facio-cutaneous syndrome.

    Am J Med Genet 1989; 33 (4): 474-5

    *2596506*
                           2596506

    107. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

    Am J Med Genet A 2019; 179 (6): 1091-1097

    *30908877*
                           30908877

    108. Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

    Am J Med Genet A 2019; 179 (6): 940-947

    *30854769*
                           30854769

    109. MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.

    Am J Med Genet A 2018; 176 (7): 1670-1674

    *29799162*
                           29799162

    110. A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?

    Am J Med Genet A 2018; 176 (7): 1637-1640

    *29704308*
                           29704308

    111. Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

    Am J Med Genet A 2018; 176 (12): 2867-2871

    *30462361*
                           30462361

    PMC6312476 112. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

    Am J Med Genet A 2018; 176 (12): 2924-2929

    *30302932*
                           30302932

    113. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

    Am J Med Genet A 2017; 173 (9): 2346-2352

    *28650561*
                           28650561

    114. Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

    Am J Med Genet A 2017; 173 (2): 452-459

    *27862862*
                           27862862

    115. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.

    Am J Med Genet A 2016; 170 (10): 2570-7 allanson@cheo.on.ca.;

    *27155212*
                           27155212

    116. Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.

    Am J Med Genet A 2016; 170A (5): 1251-6

    *26842671*
                           26842671

    117. Prenatal findings in cardio-facio-cutaneous syndrome.

    Am J Med Genet A 2016; 170A (2): 441-445

    *26494162*
                           26494162

    118. Behavioral functioning in cardiofaciocutaneous syndrome: Risk factors and impact on parenting experience.

    Am J Med Genet A 2016; 170 (8): 1974-88

    *27149079*
                           27149079

    119. Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

    Am J Med Genet A 2015; 167A (11): 2685-90

    *25974318*
                           25974318

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    *24246682*
                           24246682


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