PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane‐bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and beh...

詳細記述

保存先:
書誌詳細
出版年:Clin Genet
主要な著者: Tremblay‐Laganière, Camille, Kaiyrzhanov, Rauan, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Salayev, Kamran, Chilton, Ilana T., Chung, Wendy K., Madden, Jill A., Phornphutkul, Chanika, Agrawal, Pankaj B., Houlden, Henry, Campeau, Philippe M.
フォーマット: Artigo
言語:Inglês
出版事項: Blackwell Publishing Ltd 2020
主題:
Short Reports
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7839508/
https://ncbi.nlm.nih.gov/pubmed/33156547
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13877
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