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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
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On-line přístup: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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