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: | |
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フォーマット: | Journal article |
言語: | English |
出版事項: |
2006
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