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Article

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

American journal of medical genetics. Part A - 1 Dec 2003

Gomot Marie, Gendrot Chantal, Verloes Alain, Raynaud Martine, David Albert, Yntema Helger G, Dessay Sabine, Kalscheuer Vera, Frints Suzanne, Couvert Philippe, Briault Sylvain, Blesson Sophie, Toutain Annick, Chelly Jamel, Desportes Vincent, Moraine Claude

Abstract excerpt

Non-syndromic X-linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syndrome (RTT), an X-linked dominant condition mostly sporadic and usually lethal in males, most affected females have been shown to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14598336
DOI: 10.1002/ajmg.a.20247

Genes

MECP2
TRD

Provenance

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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