ロード中...

Novel ARX mutation identified in infantile spasm syndrome patient

We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the...

詳細記述

保存先:
書誌詳細
出版年:Hum Genome Var
主要な著者: Takeshita, Yohei, Ohto, Tatsuyuki, Enokizono, Takashi, Tanaka, Mai, Suzuki, Hisato, Fukushima, Hiroko, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109071/
https://ncbi.nlm.nih.gov/pubmed/32257294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0094-2
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!