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Article

Molecular-clinical spectrum of the ATR-X syndrome.

American journal of medical genetics - 1 Jan 2000

Gibbons R J, Higgs D R

Abstract excerpt

Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. An attempt is made in this article to review the...

Read the complete abstract on PubMed

Topics

Abnormalities, Multiple
DNA Helicases
DNA-Binding Proteins
Face
Genetic Linkage
Genotype
Humans

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Intellectual Disability

Musculoskeletal Abnormalities

Nuclear Proteins

Phenotype

Syndrome

Transcription Factors

Urogenital Abnormalities

X Chromosome

X-linked Nuclear Protein

Source

Identifiers

PMID: 11449489
DOI: 10.1002/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X

Genes

ATR
ATRX

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular-clinical spectrum of the ATR-X syndrome.PMID 11449489Read ↗

ATR-X syndrome: genetics, clinical spectrum, and management.Semantic proximity Read ↗

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.Semantic proximity Read ↗

[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].Semantic proximity Read ↗

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.Semantic proximity Read ↗

Alpha thalassaemia-mental retardation, X linked.Semantic proximity Read ↗

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[X-linked alpha-thalassemia/mental retardation syndrome].Semantic proximity Read ↗

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.Semantic proximity Read ↗

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