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Article

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

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Sept 2005

Giuliano F, Badens C, Richelme C, Levy N, Lambert J C

Abstract excerpt

The alpha-thalassemia/mental retardation syndrome, X linked, also named ATR-X syndrome is a X-linked mental retardation syndrome. Mutations have been found in the ATRX gene in about one half of the patients. We report a typical clinical case. The clinical evidence leads us to continue the analysis of the gene despite a negative first screening. Indeed a new mutation was found, just behind the helicase domain,...

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Source

Identifiers

PMID: 16125058
DOI: 10.1016/j.arcped.2005.03.053

Genes

ATR
ATRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

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[ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].PMID 16125058Read ↗

Molecular-clinical spectrum of the ATR-X syndrome.Semantic proximity Read ↗

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.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 ↗

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.Semantic proximity Read ↗

A novel splicing mutation of the ATRX gene in ATR-X 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 ↗

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

Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.Semantic proximity Read ↗

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

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

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].Semantic proximity Read ↗

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