POGZ truncating alleles cause syndromic intellectual disability

BACKGROUND: Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies. De novo mutations in pogo transposable element with zi...

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書誌詳細
出版年:Genome Med
主要な著者: White, Janson, Beck, Christine R., Harel, Tamar, Posey, Jennifer E., Jhangiani, Shalini N., Tang, Sha, Farwell, Kelly D., Powis, Zöe, Mendelsohn, Nancy J., Baker, Janice A., Pollack, Lynda, Mason, Kati J., Wierenga, Klaas J., Arrington, Daniel K., Hall, Melissa, Psychogios, Apostolos, Fairbrother, Laura, Walkiewicz, Magdalena, Person, Richard E., Niu, Zhiyv, Zhang, Jing, Rosenfeld, Jill A., Muzny, Donna M., Eng, Christine, Beaudet, Arthur L., Lupski, James R., Boerwinkle, Eric, Gibbs, Richard A., Yang, Yaping, Xia, Fan, Sutton, V. Reid
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2016
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4702300/
https://ncbi.nlm.nih.gov/pubmed/26739615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0253-0
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