Alpha thalassaemia-mental retardation, X linked.

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been reported. Langu...

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Autore principale: Gibbons, R
Natura: Journal article
Lingua:English
Pubblicazione: 2006