Literature DB >> 12150221

Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father.

D M Ioan1, D Dagomiz, J P Fryns.   

Abstract

In this short report we present further evidence for the autosomal dominant pattern of inheritance with variable expressivity in the Oculo-Dento-Digital Dysplasia (OMIM * 164200). The full clinical manifestation of the syndrome was observed in a 9.5-year-old girl with contrasting mild manifestation (complete cutaneous syndactyly of fingers IV-V--type III syndactyly) in her father.

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Year:  2002        PMID: 12150221

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  1 in total

1.  A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Authors:  A Jamsheer; M Wisniewska; A Szpak; G Bugaj; M R Krawczynski; B Budny; A Wawrocka; A Latos-Bieleńska
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

  1 in total

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