Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large mu...

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Hlavní autoři: Thomas, Shery, Thomas, Mervyn G, Andrews, Caroline, Chan, Wai-Man, Proudlock, Frank A, McLean, Rebecca J, Pradeep, Archana, Engle, Elizabeth C, Gottlob, Irene
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3925285/
https://ncbi.nlm.nih.gov/pubmed/23942204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.162
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