Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal development have been associated with different CCDD phenotypes. By using linkage analysis, candidate gene screening, and exome sequencing, we identifi...

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Publicado en:Am J Hum Genet
Main Authors: Shinwari, Jameela M.A., Khan, Arif, Awad, Salma, Shinwari, Zakia, Alaiya, Ayodele, Alanazi, Mohamad, Tahir, Asma, Poizat, Coralie, Al Tassan, Nada
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4289688/
https://ncbi.nlm.nih.gov/pubmed/25500261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.11.006
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