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Article

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

Clinical dysmorphology - 1 Jul 2009

Jezela-Stanek Aleksandra, Fisher Chris, Szarras-Czapnik Maria, Olczak-Kowalczyk Dorota, Gibbons Richard J, Słowikowska-Hilczer Jolanta, Krajewska-Walasek Małgorzata

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Share to alpha-Thalassemia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19444090
DOI: 10.1097/MCD.0b013e32832a9ea5

Genes

ATRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.PMID 19444090Read ↗

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

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

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.Semantic proximity Read ↗

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

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

Mutations in the chromatin-associated protein ATRX.Semantic proximity Read ↗

New heritable ATRX mutation identified by whole exome sequencing and reviewSemantic proximity Read ↗

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.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 ↗

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