Article
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
American journal of human genetics - 8 Jun 2012
Doherty Dan, Chudley Albert E, Coghlan Gail, Ishak Gisele E, Innes A Micheil, Lemire Edmond G, Rogers R Curtis, Mhanni Aizeddin A, Phelps Ian G, Jones Steven J M, Zhan Shing H, Fejes Anthony P, Shahin Hashem, Kanaan Moien, Akay Hatice, Tekin Mustafa, Triggs-Raine Barbara, Zelinski Teresa
Abstract excerpt
Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, frontal polymicrogyria and gray matter heterotopia are uniformly present, whereas cerebellar dysplasia, ventriculomegaly, and arachnoid cysts are nearly...
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