De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

doi:10.1002/ajmg.a.63399

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Article

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

American journal of medical genetics. Part A - 1 Jan 2024

Ward Scott K, Wadley Alexandrea, Tsai Chun-Hui Anne, Benke Paul J, Emrick Lisa, Fisher Kristen, Houck Kimberly M, Dai Hongzheng, Guillen Sacoto Maria J, Craigen William, Glaser Kimberly, Murdock David R, Rohena Luis, Diderich Karin E M, Bruggenwirth Hennie T, Lee Brendan, Bacino Carlos, Burrage Lindsay C, Rosenfeld Jill A

Abstract excerpt

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with...

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PMID: 37743782
DOI: 10.1002/ajmg.a.63399
PMCID: PMC11221546

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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