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10.1002/ajmg.a.40635 http://scihub22266oqcxt.onion/10.1002/ajmg.a.40635 30462361!ä!30462361 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2018 ; 176 (12): 2867-2871 Nephropedia Template TP {{tp|p=30462361|t=2018. Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy |pdf=|usr=}}{{30462361}} gab.com Text Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=30462361 #FOAvip We report a 9-year-old girl with hypotonia, severe motor delay, absent speech, and facial dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio-based whole exome sequencing (WES) analysis detected a de novo heterozygous mutation in the BRAF gene leading to the diagnosis of an atypical presentation of cardiofaciocutaneous (CFC) syndrome. This is the second case of CFC syndrome complicated with acute encephalopathy reported in the literature and supports the hypothesis that acute encephalopathy might be one of the complications of the syndrome due to an intrinsic susceptibility to this acute event. The report furthermore highlights the role of WES in providing a fast diagnosis in patients in critical conditions with atypical presentation of rare genetic syndromes. Twit Text FOAVip Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=30462361 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30462361 #FOAvip English Wikipedia <ref>{{Cite pmid|30462361}}</ref> Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy #MMPMID30462361 Pezzani L; Marchetti D; Cereda A; Caffi LG; Manara O; Mamoli D; Pezzoli L; Lincesso AR; Perego L; Pellicioli I; Bonanomi E; Salvoni L; Iascone M Am J Med Genet A 2018[Dec]; 176 (12): 2867-2871 PMID30462361show ga We report a 9-year-old girl with hypotonia, severe motor delay, absent speech, and facial dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio-based whole exome sequencing (WES) analysis detected a de novo heterozygous mutation in the BRAF gene leading to the diagnosis of an atypical presentation of cardiofaciocutaneous (CFC) syndrome. This is the second case of CFC syndrome complicated with acute encephalopathy reported in the literature and supports the hypothesis that acute encephalopathy might be one of the complications of the syndrome due to an intrinsic susceptibility to this acute event. The report furthermore highlights the role of WES in providing a fast diagnosis in patients in critical conditions with atypical presentation of rare genetic syndromes. |*Genes, ras[MESH] |*Genetic Association Studies/methods[MESH] |*Genetic Predisposition to Disease[MESH] |*Mutation[MESH] |*Phenotype[MESH] |Brain/abnormalities/diagnostic imaging[MESH] |Child[MESH] |Comparative Genomic Hybridization[MESH] |Egypt[MESH] |Electroencephalography[MESH] |Exome Sequencing[MESH] |Facies[MESH] |Female[MESH] |Humans[MESH] |Karyotyping[MESH] |Magnetic Resonance Imaging[MESH]Atypical presentation of pediatric BRAF RASopathy with acute encephalo(epmc).pdf DeepDyve Pubget Overpricing