Article
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.
European journal of human genetics : EJHG - 1 Feb 2014
Di Donato N, Rump A, Koenig R, Der Kaloustian V M, Halal F, Sonntag K, Krause C, Hackmann K, Hahn G, Schrock E, Verloes A
Abstract excerpt
ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability. One of the patients carrying an ACTB mutation was previously diagnosed with Fryns-Aftimos syndrome (FAS), which is a rare and severe, multiple congenital anomaly (MCA) syndrome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.