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
Institution
Titre
Heredite de la dystrophie granuleuse de la cornee (Groenouw I). [Heredity of granular corneal dystrophy (Groenouw I)]
Périodique
Ophthalmologie
ISSN
0181-5512
0989-3105 (Print)
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
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
20/08/2019 15:45
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