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Recurrence of Pallister-Hall syndrome in two sibs.

We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a domin...

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Detalhes bibliográficos
Main Authors: Thomas, H M, Todd, P J, Heaf, D, Fryer, A E
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049678/
https://ncbi.nlm.nih.gov/pubmed/8182722
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