X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.
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 brothe...
Egile Nagusiak: | Wilkie, A, Gibbons, R, Higgs, D, Pembrey, M |
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Formatua: | Journal article |
Hizkuntza: | English |
Argitaratua: |
1991
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Antzeko izenburuak
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Alpha thalassaemia-mental retardation, X linked.
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