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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Detaylı Bibliyografya
Yayımlandı:Genome Med
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Research
Online Erişim: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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