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Article

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.

European journal of human genetics : EJHG - 1 Mar 2010

Rujirabanjerd Sinitdhorn, Nelson John, Tarpey Patrick S, Hackett Anna, Edkins Sarah, Raymond F Lucy, Schwartz Charles E, Turner Gillian, Iwase Shigeki, Shi Yang, Futreal P Andrew, Stratton Michael R, Gecz Jozef

Abstract excerpt

Mental retardation (MR) is characterized by cognitive impairment with an IQ <70. Many of the major causes are genetically determined and the approximately 30% male excess suggests that mutations in genes carried on the X chromosome are disproportionably represented. One such gene, jumonji AT-rich interactive domain 1C (JARID1C) on Xp11.2, has been identified in families with X-linked MR (XLMR), with 18 different...

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PMID: 19826449
DOI: 10.1038/ejhg.2009.175
PMCID: PMC2987212

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

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