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Article

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

American journal of human genetics - 4 May 2017

Tatton-Brown Katrina, Loveday Chey, Yost Shawn, Clarke Matthew, Ramsay Emma, Zachariou Anna, Elliott Anna, Wylie Harriet, Ardissone Anna, Rittinger Olaf, Stewart Fiona, Temple I Karen, Cole Trevor, Mahamdallie Shazia, Seal Sheila, Ruark Elise, Rahman Nazneen

Abstract excerpt

To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated with a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28475857
DOI: 10.1016/j.ajhg.2017.03.010
PMCID: PMC5420355

Genes

CHD8
EED
NSD1

Provenance

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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