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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Veröffentlicht in:Genome Med
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
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Research
Online Zugang: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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