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Article

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

Medycyna wieku rozwojowego - 1 Jan 2000

Szczałuba Krzysztof, Obersztyn Ewa, Nowakowska Beata, Bernaciak Joanna, Fisher Christopher, Gibbons Richard, Mazurczak Tadeusz, Bocian Ewa

Abstract excerpt

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, muscular hypotonia, delay of growth, genitourinary/skeletal abnormalities and characteristic facial dysmorphism....

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Identifiers

PMID: 22516698

Genes

ATR

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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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[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].PMID 22516698Read ↗

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

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.Semantic proximity Read ↗

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).Semantic proximity Read ↗

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

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

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

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

A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.Semantic proximity Read ↗

[Monogenic causes of X-linked mental retardation].Semantic proximity Read ↗

X-linked mental deficiency.Semantic proximity Read ↗

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.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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