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Alpha thalassaemia mental retardation (ATR-X): an atypical family.

A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detec...

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Main Authors: Logie, L J, Gibbons, R J, Higgs, D R, Brown, J K, Porteous, M E
Format: Artigo
Jezik:Inglês
Izdano: 1994
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1029838/
https://ncbi.nlm.nih.gov/pubmed/8017970
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