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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Autosomal dominant transmission of Pallister-Hall syndrome.
    Author: Penman Splitt M, Wright C, Perry R, Burn J.
    Journal: Clin Dysmorphol; 1994 Oct; 3(4):301-8. PubMed ID: 7894735.
    Abstract:
    A mother and daughter with Pallister-Hall syndrome are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of this condition. The mother survived childhood and became pregnant without exogenous endocrine supplements, demonstrating that the gene manifests variable expressivity.
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