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

Abstract:

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. Molecular basis of the syndrome constitute mutations in ATR-X gene located on the long ...

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Authors


Szczałuba, K More by this author
Obersztyn, E More by this author
Nowakowska, B More by this author
Bernaciak, J More by this author
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Journal:
Medycyna wieku rozwojowego
Volume:
15
Issue:
4
Pages:
437-444
Publication date:
2011
URN:
uuid:5d5be6a5-ebe2-4e1c-9842-abff5056fd33
Source identifiers:
354113
Local pid:
pubs:354113

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