Article
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Investigative ophthalmology & visual science - 1 Jun 2015
Schrauwen Isabelle, Szelinger Szabolcs, Siniard Ashley L, Corneveaux Jason J, Kurdoglu Ahmet, Richholt Ryan, De Both Matt, Malenica Ivana, Swaminathan Shanker, Rangasamy Sampathkumar, Kulkarni Neil, Bernes Saunder, Buchhalter Jeffrey, Ramsey Keri, Craig David W, Narayanan Vinodh, Huentelman Matthew J
Abstract excerpt
PURPOSE: Aicardi syndrome (AIC) is a congenital neurodevelopmental disorder characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. Variation in phenotype and disease severity is well documented, but chorioretinal lacunae represent the most constant pathological feature. Aicardi syndrome is believed to be an X-linked-dominant disorder occurring almost exclusively in females,...
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