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Article

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

American journal of medical genetics. Part A - 15 Oct 2006

Badens Catherine, Martini Nathalie, Courrier Sébastien, DesPortes Vincent, Touraine Renaud, Levy Nicolas, Edery Patrick

Abstract excerpt

Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16955409
DOI: 10.1002/ajmg.a.31400

Genes

ATRX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16955409-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.PMID 16955409Read ↗

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Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.Semantic proximity Read ↗

ATRX and sex differentiation.Semantic proximity Read ↗

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.Semantic proximity Read ↗

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