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Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

A previously unreported family in which seven members in two generations have Beckwith-Wiedemann syndrome (BWS) is documented. Paternal imprinting of the gene responsible for BWS is involved as the mechanism responsible for the aberrant inheritance pattern in this kindred. A review of published repo...

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Detalhes bibliográficos
Main Authors: Viljoen, D, Ramesar, R
Formato: Artigo
Idioma:Inglês
Publicado em: 1992
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015916/
https://ncbi.nlm.nih.gov/pubmed/1583639
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