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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Aritoshi Iida, Eri Takeshita, Shunichi Kosugi, Yoichiro Kamatani, Yukihide Momozawa, Michiaki Kubo, Eiji Nakagawa, Kenji Kurosawa, Ken Inoue, Yu-ichi Goto

ABSTRACT

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 carrying a novel intragenic 13.5-kb deletion in OPHN1 ranging from exon 11-15. This is the first report of an OPHN1 deletion in a Japanese patient with DWM. More... »

PAGES

1

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0032-8

DOI

http://dx.doi.org/10.1038/s41439-018-0032-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110372462

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30534410


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