Literature DB >> 7894735

Autosomal dominant transmission of Pallister-Hall syndrome.

M Penman Splitt1, C Wright, R Perry, J Burn.   

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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Year:  1994        PMID: 7894735

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.

Authors:  S Kang; J Allen; J M Graham; T Grebe; C Clericuzio; N Patronas; F Ondrey; E Green; A Schäffer; M Abbott; L G Biesecker
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.

Authors:  A Verloes; A David; L Ngô; A Bottani
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

  3 in total

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