Heredite de la dystrophie granuleuse de la cornee (Groenouw I). [Heredity of granular corneal dystrophy (Groenouw I)]

Détails

ID Serval
serval:BIB_869D064D22F5
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Heredite de la dystrophie granuleuse de la cornee (Groenouw I). [Heredity of granular corneal dystrophy (Groenouw I)]
Périodique
Ophthalmologie
Auteur(s)
Cuendet  J. F., Beuret-Niedzielsky  A., Zografos  L.
ISSN
0181-5512
0989-3105 (Print)
Statut éditorial
Publié
Date de publication
12/1989
Volume
3
Numéro
4
Pages
265-6
Notes
English Abstract
Journal Article --- Old month value: Sep-Dec
Résumé
Up-to date settlement, after 34 years, of a huge pedigree of 1391 individuals of which 77 were affected. The dominant autosomal mode of inheritance is confirmed. Nevertheless, discovery of an incomplete penetrance. The offspring of two affected individuals suggest that the heterozygotes and the affected homozygotes are identical. So an intermediate mode of inheritance would be excluded.
Mots-clé
Consanguinity Corneal Dystrophies, Hereditary/*genetics Female Genes, Dominant Heterozygote Detection Humans Male Pedigree
Pubmed
Création de la notice
28/01/2008 14:09
Dernière modification de la notice
03/03/2018 18:59
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