Alpha thalassaemia mental retardation (ATR-X): an atypical family.

Abstract:

:A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations.

journal_name

Arch Dis Child

authors

Logie LJ,Gibbons RJ,Higgs DR,Brown JK,Porteous ME

doi

10.1136/adc.70.5.439

subject

Has Abstract

pub_date

1994-05-01 00:00:00

pages

439-40

issue

5

eissn

0003-9888

issn

1468-2044

journal_volume

70

pub_type

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