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...
Huvudupphovsman: | Gibbons, R |
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Materialtyp: | Journal article |
Språk: | English |
Publicerad: |
2006
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Liknande verk
Liknande verk
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Alpha thalassaemia-mental retardation, X linked.
av: Gibbons, R
Publicerad: (2006) -
Alpha thalassaemia-mental retardation, X linked
av: Gibbons Richard
Publicerad: (2006-05-01) -
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
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Alpha thalassaemia mental retardation (ATR-X): an atypical family.
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alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
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