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  • Title: X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
    Author: Wilkie AO, Gibbons RJ, Higgs DR, Pembrey ME.
    Journal: J Med Genet; 1991 Nov; 28(11):738-41. PubMed ID: 1770529.
    Abstract:
    We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brother. The cousin has less typical dysmorphism and a virtually normal routine blood count, but haemoglobin H inclusions were found in his red blood cells showing that he has the same condition. This report expands the clinical phenotype of the ATR-X syndrome and emphasises that a normal blood count does not exclude the diagnosis.
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