Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. 1. Cases due to deletions involving chromosome band 16p13.3

We describe eight patients who have α thalassemia which cannot be accounted for by the Mendelian inheritance of abnormal α globin genes. Apart from the hematologic abnormality, the other universal clinical finding is mild to moderate mental handicap; there is also a broad spectrum of associated dysm...

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Autori principali: Wilkie, A. O. M., Buckle, V. J., Harris, P. C., Lamb, J., Barton, N. J., Reeders, S. T., Lindenbaum, R. H., Nicholls, R. D., Barrow, M., Bethlenfalvay, N. C., Hutz, M. H., Tolmie, J. L., Weatherall, D. J., Higgs, D. R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1990
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683839/
https://ncbi.nlm.nih.gov/pubmed/2339704
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