A FRMD7 variant in a Japanese family causes congenital nystagmus

Idiopathic congenital nystagmus (ICN) is a genetically heterogeneous eye movement disorder that causes a large proportion of childhood visual impairment. Here we describe a missense variant (p.L292P) within a mutation-rich region of FRMD7 detected in three affected male siblings in a Japanese family...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Kohmoto, Tomohiro, Okamoto, Nana, Satomura, Shigeko, Naruto, Takuya, Komori, Takahide, Hashimoto, Toshiaki, Imoto, Issei
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785577/
https://ncbi.nlm.nih.gov/pubmed/27081518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.2
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