Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly

Hemimegalencephaly (HME) is a heterogeneous cortical malformation characterized by enlargement of one cerebral hemisphere. Somatic variants in mammalian target of rapamycin (mTOR) regulatory genes have been implicated in some HME cases; however, ∼70% have no identified genetic etiology. Here, we scr...

詳細記述

保存先:
書誌詳細
出版年:Cold Spring Harb Mol Case Stud
主要な著者: Griffin, Nicole G., Cronin, Kenneth D., Walley, Nicole M., Hulette, Christine M., Grant, Gerald A., Mikati, Mohamad A., LaBreche, Heather G., Rehder, Catherine W., Allen, Andrew S., Crino, Peter B., Heinzen, Erin L.
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2017
主題:
Research Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593155/
https://ncbi.nlm.nih.gov/pubmed/28864461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001735
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