X-linked alpha thalassemia mental retardation syndrome

X-linked alpha thalassemia mental retardation syndrome
OMIM	301040

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Overview

Caused by mutations in the ATR X gene. ATR X syndrome is characterised by severe learning difficulties, a characteristic facial appearance, abnormal genitalia and alpha thalassemia. The ATR protein affects the 3D structure of chromatin in the cell nucleus.

References

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