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10.1002/ajmg.a.33787 http://scihub22266oqcxt.onion/10.1002/ajmg.a.33787 21337689!ä!21337689 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 269.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 269.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2011 ; 155A (3): 605-11 Nephropedia Template TP {{tp|p=21337689|t=2011. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review |pdf=|usr=}}{{21337689}} gab.com Text CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=21337689 #FOAvip Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of cognitive impairment, and multiple congenital anomalies including characteristic facies, cardiac, and ectodermal abnormalities. CFC syndrome is caused by mutations in the genes BRAF, MEK1, or MEK2. Here we provide a follow-up report on two patients presenting distinct facial appearance and other features of the syndrome, and we present the first molecular evidence of paternal origin for a CFC-causing germline mutation. Brain imaging revealed a lipoma of the corpus callosum and periventricular leukoencephalopathy as well as a hypoplastic corpus callosum, and defects in myelinization, in each patient, respectively. A review of the literature showed that, although non-specific, ventriculomegaly, hydrocephalus, and cortical atrophy represent the most frequent imaging findings of brain anomalies in CFC syndrome. CNS abnormalities are significant diagnostic features of CFC syndrome and a brain MRI is recommended in individuals diagnosed with CFC or suspected of having CFC syndrome. Twit Text FOAVip CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=21337689 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21337689 #FOAvip English Wikipedia <ref>{{Cite pmid|21337689}}</ref> CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: two cases and literature review #MMPMID21337689 Papadopoulou E; Sifakis S; Sol-Church K; Klein-Zighelboim E; Stabley DL; Raissaki M; Gripp KW; Kalmanti M Am J Med Genet A 2011[Mar]; 155A (3): 605-11 PMID21337689show ga Cardio-facio-cutaneous (CFC) syndrome is characterized by a variable degree of cognitive impairment, and multiple congenital anomalies including characteristic facies, cardiac, and ectodermal abnormalities. CFC syndrome is caused by mutations in the genes BRAF, MEK1, or MEK2. Here we provide a follow-up report on two patients presenting distinct facial appearance and other features of the syndrome, and we present the first molecular evidence of paternal origin for a CFC-causing germline mutation. Brain imaging revealed a lipoma of the corpus callosum and periventricular leukoencephalopathy as well as a hypoplastic corpus callosum, and defects in myelinization, in each patient, respectively. A review of the literature showed that, although non-specific, ventriculomegaly, hydrocephalus, and cortical atrophy represent the most frequent imaging findings of brain anomalies in CFC syndrome. CNS abnormalities are significant diagnostic features of CFC syndrome and a brain MRI is recommended in individuals diagnosed with CFC or suspected of having CFC syndrome. |*Diagnostic Imaging[MESH] |Base Sequence[MESH] |Brain/abnormalities[MESH] |Central Nervous System/*abnormalities[MESH] |Child[MESH] |Child, Preschool[MESH] |DNA Mutational Analysis[MESH] |Ectodermal Dysplasia/diagnosis/enzymology/genetics[MESH] |Facies[MESH] |Failure to Thrive/diagnosis/enzymology/genetics[MESH] |Female[MESH] |Germ-Line Mutation/genetics[MESH] |Heart Defects, Congenital/diagnosis/enzymology/genetics[MESH] |Humans[MESH] |Infant[MESH] |Infant, Newborn[MESH] |MAP Kinase Kinase 1/genetics[MESH] |Magnetic Resonance Imaging[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Parents[MESH]CNS imaging is a key diagnostic tool in the evaluation of patients wit(epmc).pdf DeepDyve Pubget Overpricing