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10.1002/ajmg.a.36429 http://scihub22266oqcxt.onion/10.1002/ajmg.a.36429 25487361!ä!25487361 Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25487361&cmd=llinks): Failed to open stream: HTTP request failed! 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Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation |pdf=|usr=}}{{25487361}} gab.com Text Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=25487361 #FOAvip Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder belonging to the group of RASopathies. It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellectual disability, failure to thrive, and ectodermal abnormalities such as hyperkeratosis and sparse, brittle, curly hair. CFC syndrome is caused by dominant mutations in one of the four genes BRAF, MEK1, MEK2, and KRAS. Only three familial cases of CFC syndrome have been reported to date, whereas the vast majorities are sporadic cases due to de novo mutations. We report on a fourth familial case with transmission of CFC syndrome from father to son due to a novel heterozygous sequence change c.376A>G (p.N126D) in exon 3 of MEK2 gene. This observation further documents the possibility of vertical transmission of CFC syndrome, which appears to be associated with rare mutations and relatively mild intellectual disability in affected individual. The hypomorphic effect of specific mutations particularly regarding neurocognitive issues may be related to the variable fertility of affected individuals. Twit Text FOAVip Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=25487361 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25487361 #FOAvip English Wikipedia <ref>{{Cite pmid|25487361}}</ref> Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation #MMPMID25487361 Karaer K; Lissewski C; Zenker M Am J Med Genet A 2015[Feb]; 167A (2): 385-8 PMID25487361show ga Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder belonging to the group of RASopathies. It is typically characterized by congenital heart defects, short stature, dysmorphic craniofacial features, intellectual disability, failure to thrive, and ectodermal abnormalities such as hyperkeratosis and sparse, brittle, curly hair. CFC syndrome is caused by dominant mutations in one of the four genes BRAF, MEK1, MEK2, and KRAS. Only three familial cases of CFC syndrome have been reported to date, whereas the vast majorities are sporadic cases due to de novo mutations. We report on a fourth familial case with transmission of CFC syndrome from father to son due to a novel heterozygous sequence change c.376A>G (p.N126D) in exon 3 of MEK2 gene. This observation further documents the possibility of vertical transmission of CFC syndrome, which appears to be associated with rare mutations and relatively mild intellectual disability in affected individual. The hypomorphic effect of specific mutations particularly regarding neurocognitive issues may be related to the variable fertility of affected individuals. |*Mutation[MESH] |Adult[MESH] |Ectodermal Dysplasia/*diagnosis/*genetics[MESH] |Exons[MESH] |Facies[MESH] |Failure to Thrive/*diagnosis/*genetics[MESH] |Genetic Association Studies[MESH] |Heart Defects, Congenital/*diagnosis/*genetics[MESH] |Heterozygote[MESH] |Humans[MESH] |Infant[MESH] |MAP Kinase Kinase 2/*genetics[MESH] |Male[MESH]Familial cardiofaciocutaneous syndrome in a father and a son with a no(epmc).pdf DeepDyve Pubget Overpricing