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Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus

  • Published:2011-04-04 Issue:5 Volume:155 Page:1106-1108
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Prontera Paolo,Rogaia Daniela,Sobacchi Cristina,Tavares Vanessa Luiza Romanelli,Mazzotta Giovanni,Passos-Bueno Maria Rita,Donti Emilio

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Craniometaphyseal dysplasia-Variability of expression within a large family;Beighton;Clin Genet,1979

2. Craniometaphyseal dysplasia (CMD), autosomal dominant form;Beighton;J Med Genet,1995

3. Autosomal dominant craniometaphyseal dysplasia: Clinical variability;Carnevale;Clin Genet,1983

4. A comprehensive genetic map of the human genome based on 5,264 microsatellites;Dib;Nature,1996

5. Genetic craniotubular bone dysplasias and hyperostoses: A critical analysis;Gorlin;Birth Defects,1969

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