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Article

Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

Journal of medical genetics - 1 Dec 2008

Abidi F E, Holloway L, Moore C A, Weaver D D, Simensen R J, Stevenson R E, Rogers R C, Schwartz C E

Abstract excerpt

BACKGROUND: Mutations in the JARID1C (Jumonji AT-rich interactive domain 1C) gene were recently associated with X-linked mental retardation (XLMR). Mutations in this gene are reported to be one of the relatively more common causes of XLMR with a frequency of approximately 3% in males with proven or probable XLMR. The JARID1C protein functions as a histone 3 lysine 4 (H3K4) demethylase and is involved in the...

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Source

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Identifiers

PMID: 18697827
DOI: 10.1136/jmg.2008.058990
PMCID: PMC3711528

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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