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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...

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Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Wilkie, A O, Gibbons, R J, Higgs, D R, Pembrey, M E
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1991
Teme:
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017107/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1770529/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.11.738
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