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Article

Novel Intragenic Duplication of GATAD2B in a Patient With GAND.

American journal of medical genetics. Part A - 1 Dec 2025

Mori Mari, Estes Steven, Ramadesikan Swetha, Schmalz Betsy, Plourde Shayne, Hernandez Gonzalez Maria E, Miller Anthony R, Chaudhari Bimal P, Wilson Richard K, Koboldt Daniel C

Abstract excerpt

The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B-Associated Neurodevelopmental Disorder (GAND), an autosomal dominant neurodevelopmental disorder characterized by intellectual...

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Identifiers

PMID: 40770973
DOI: 10.1002/ajmg.a.64205

Genes

GATAD2B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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