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Article

De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.

American journal of human genetics - 5 Mar 2015

Arboleda Valerie A, Lee Hane, Dorrani Naghmeh, Zadeh Neda, Willis Mary, Macmurdo Colleen Forsyth, Manning Melanie A, Kwan Andrea, Hudgins Louanne, Barthelemy Florian, Miceli M Carrie, Quintero-Rivera Fabiola, Kantarci Sibel, Strom Samuel P, Deignan Joshua L, Grody Wayne W, Vilain Eric, Nelson Stanley F

Abstract excerpt

Chromatin remodeling through histone acetyltransferase (HAT) and histone deactylase (HDAC) enzymes affects fundamental cellular processes including the cell-cycle, cell differentiation, metabolism, and apoptosis. Nonsense mutations in genes that are involved in histone acetylation and deacetylation result in multiple congenital anomalies with most individuals displaying significant developmental delay,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25728775
DOI: 10.1016/j.ajhg.2015.01.017
PMCID: PMC4375619

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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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