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

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...

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Hlavní autoři: Abidi, F E, Holloway, L, Moore, C A, Weaver, D D, Simensen, R J, Stevenson, R E, Rogers, R C, Schwartz, C E
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3711528/
https://ncbi.nlm.nih.gov/pubmed/18697827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.058990
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