A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

Dandy-Walker malformation (DWM) is a rare congenital malformation defined by hypoplasia of the cerebellar vermis and cystic dilatation of the fourth ventricle. Oligophrenin-1 is mutated in X-linked intellectual disability with or without cerebellar hypoplasia. Here, we report a Japanese DWM patient...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6281661/
https://ncbi.nlm.nih.gov/pubmed/30534410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0032-8
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