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Article

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.

American journal of medical genetics. Part A - 1 Jul 2022

Merriweather Ashanta, Murdock David R, Rosenfeld Jill A, Dai Hongzheng, Ketkar Shamika, Emrick Lisa, Nicholas Sarah, Lewis Richard A, Bacino Carlos A, Scott Daryl A, Lee Brendan, Sutton Vernon Reid, Potocki Lorraine, Burrage Lindsay C

Abstract excerpt

White-Sutton syndrome (WHSUS), which is caused by heterozygous pathogenic variants in POGZ, is characterized by a spectrum of intellectual disabilities and global developmental delay with or without features of autism spectrum disorder. Additional features may include hypotonia, behavioral abnormalities, ophthalmic abnormalities, hearing loss, sleep apnea, microcephaly, dysmorphic facial features, and rarely,...

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Identifiers

PMID: 35396900
DOI: 10.1002/ajmg.a.62747
PMCID: PMC9197987

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