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Article

Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

American journal of medical genetics - 18 Sept 2000

Wada T, Kubota T, Fukushima Y, Saitoh S

Abstract excerpt

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is one of the many known X-linked mental retardation syndromes. Mutations in the ATR-X gene (ATRX) that encodes a putative global transcription factor have been identified in patients with ATR-X as well as those with other forms of X-linked mental retardation syndrome. To better understand the genetic basis of ATR-X, we investigated nine patients with...

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Source

Identifiers

PMID: 10995512

Genes

ATR
ATRX

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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Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).PMID 10995512Read ↗

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

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A novel splicing mutation of the ATRX gene in ATR-X syndrome.Semantic proximity Read ↗

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A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.Semantic proximity Read ↗

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.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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