POGZ truncating alleles cause syndromic intellectual disability

Genome Medicine

Volumn 8, Issue 1, 2016, Pages

  White, Janson ^a   Beck, Christine R ^a   Harel, Tamar ^a   Posey, Jennifer E ^a   Jhangiani, Shalini N ^a   Tang, Sha ^b   Farwell, Kelly D ^b   Powis, Zöe ^b   Mendelsohn, Nancy J ^c   Baker, Janice A ^c   Pollack, Lynda ^d   Mason, Kati J ^d   Wierenga, Klaas J ^e   Arrington, Daniel K ^e   Hall, Melissa ^e   Psychogios, Apostolos ^f   Fairbrother, Laura ^f   Walkiewicz, Magdalena ^a,g   Person, Richard E ^a,g   Niu, Zhiyv ^a,g   Zhang, Jing ^a,g   Rosenfeld, Jill A ^a,g   Muzny, Donna M ^a   Eng, Christine ^a,g   Beaudet, Arthur L ^a,h   Lupski, James R ^a,h   Boerwinkle, Eric ^a,i   Gibbs, Richard A ^a   Yang, Yaping ^a   Xia, Fan ^a,g   Sutton, V Reid ^a   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b AMBRY GENETICS   (United States)

^c CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^d Arnold Palmer Children's Center   (United States)

^e UNIVERSITY OF OKLAHOMA HEALTH SCIENCES CENTER   (United States)

^f VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^g BAYLOR GENETICS   (United States)

^h TEXAS CHILDREN S HOSPITAL   (United States)

ⁱ UNIVERSITY OF TEXAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

E1A ASSOCIATED P300 PROTEIN; ETIRACETAM; METHYL CPG BINDING PROTEIN 2; PHENOBARBITAL; TOPIRAMATE; POGZ PROTEIN, HUMAN; TRANSPOSASE;

ADOLESCENT; AGGRESSION; ARTICLE; AUTOMUTILATION; BODY MASS; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; CREBBP GENE; DEVELOPMENTAL DISORDER; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EP300 GENE; FACE MALFORMATION; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LOSS OF FUNCTION MUTATION; MALE; MECP2 GENE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; PHENOTYPE; POGZ GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; RAI1 GENE; ROR2 GENE; SEQUENCE ANALYSIS; SHORT STATURE; SLEEP DISORDER; STIL GENE; STRABISMUS; SYNDROMIC INTELLECTUAL DISABILITY; ADULT; ALLELE; DNA SEQUENCE; EXOME; GENETICS; HETEROZYGOTE; INFANT; MUTATION; PATHOLOGY; PROCEDURES;

ADOLESCENT; ADULT; ALLELES; CHILD, PRESCHOOL; EXOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUTATION; SEQUENCE ANALYSIS, DNA; TRANSPOSASES;

EID: 84953297081     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-015-0253-0     Document Type: Article

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