De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Seven patients with similar phenotypes of developmental delay and microcephaly were found by whole-exome sequencing to have de novo loss-of-function mutations in POGZ. POGZ is a pogo transposable element-derived protein with a zinc finger cluster. The protein is involved in normal kinetochore assemb...

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: Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hilary J., McClellan, Rebecca, Krishnamurthy, Vidya, Vitazka, Patrik, Millan, Francisca, Chung, Wendy K.
フォーマット: Artigo
言語:Inglês
出版事項: Cold Spring Harbor Laboratory Press 2015
主題:
Research Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4850885/
https://ncbi.nlm.nih.gov/pubmed/27148570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000455
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