POGZ truncating alleles cause syndromic intellectual disability.

doi:10.1186/s13073-015-0253-0

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Article

POGZ truncating alleles cause syndromic intellectual disability.

Genome medicine - 6 Jan 2016

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

Abstract excerpt

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 zinc finger domain (POGZ) have been identified in six independent and diverse cohorts of individuals with NDDs ranging...

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PMID: 26739615
DOI: 10.1186/s13073-015-0253-0
PMCID: PMC4702300

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