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Article

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

American journal of human genetics - 1 Aug 2006

Kleefstra Tjitske, Brunner Han G, Amiel Jeanne, Oudakker Astrid R, Nillesen Willy M, Magee Alex, Geneviève David, Cormier-Daire Valérie, van Esch Hilde, Fryns Jean-Pierre, Hamel Ben C J, Sistermans Erik A, de Vries Bert B A, van Bokhoven Hans

Abstract excerpt

A clinically recognizable 9q subtelomeric deletion syndrome has recently been established. Common features seen in these patients are severe mental retardation, hypotonia, brachycephaly, flat face with hypertelorism, synophrys, anteverted nares, cupid bow or tented upper lip, everted lower lip, prognathism, macroglossia, conotruncal heart defects, and behavioral problems. The minimal critical region responsible...

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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: 16826528
DOI: 10.1086/505693
PMCID: PMC1559478

Genes

EHMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.PMID 16826528Read ↗

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