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...
第一著者: | Gibbons, R |
---|---|
フォーマット: | Journal article |
言語: | English |
出版事項: |
2006
|
類似資料
-
Alpha thalassaemia-mental retardation, X linked
著者:: Gibbons, R
出版事項: (2006) -
Alpha thalassaemia-mental retardation, X linked
著者:: Gibbons Richard
出版事項: (2006-05-01) -
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
著者:: Gibbons, R, 等
出版事項: (1991) -
Alpha thalassaemia mental retardation (ATR-X): an atypical family.
著者:: Logie, L, 等
出版事項: (1994) -
alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
著者:: Law, M, 等
出版事項: (2003)