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Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance.

In 1990 the existence of an X linked form of the alpha thalassaemia/mental retardation syndrome was postulated after the description of six isolated cases who were all cytogenetically male. The segregation pattern in the family described here supports X linked inheritance. The clinical details of ou...

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Bibliographische Detailangaben
Veröffentlicht in:J Med Genet
Hauptverfasser: Cole, T R, May, A, Hughes, H E
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 1991
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017106/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1770528/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.11.734
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