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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Pubblicato in:Am J Hum Genet
Autori principali: Shinwari, Jameela M.A., Khan, Arif, Awad, Salma, Shinwari, Zakia, Alaiya, Ayodele, Alanazi, Mohamad, Tahir, Asma, Poizat, Coralie, Al Tassan, Nada
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2015
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Accesso online: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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