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Article

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

American journal of medical genetics. Part A - 1 Mar 2006

Tabolacci Elisabetta, Pomponi M Grazia, Pietrobono Roberta, Terracciano Alessandra, Chiurazzi Pietro, Neri Giovanni

Abstract excerpt

X-linked mental retardation (XLMR) is a genetically heterogeneous condition, due to mutations in at least 50 genes, involved in functioning of the central nervous system and located on the X chromosome. Nonspecific XLMR (MRX) is characterized essentially by mental retardation transmitted by X-linked inheritance. More than 80 extended MRX pedigrees have been reported to date, which have been distinguished...

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PMID: 16470793
DOI: 10.1002/ajmg.a.31107

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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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