GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

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 heter...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370271/
https://ncbi.nlm.nih.gov/pubmed/22578326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.008
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