Article
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
American journal of medical genetics. Part A - 1 Jul 2011
Carr Christopher W, Zimmerman Holly H, Martin Christa Lese, Vikkula Miikka, Byrd Adam C, Abdul-Rahman Omar A
Abstract excerpt
Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, absent speech,...
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