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

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Serval ID
serval:BIB_869D064D22F5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Heredite de la dystrophie granuleuse de la cornee (Groenouw I). [Heredity of granular corneal dystrophy (Groenouw I)]
Journal
Ophthalmologie
Author(s)
Cuendet  J. F., Beuret-Niedzielsky  A., Zografos  L.
ISSN
0181-5512
0989-3105 (Print)
Publication state
Published
Issued date
12/1989
Volume
3
Number
4
Pages
265-6
Notes
English Abstract
Journal Article --- Old month value: Sep-Dec
Abstract
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.
Keywords
Consanguinity Corneal Dystrophies, Hereditary/*genetics Female Genes, Dominant Heterozygote Detection Humans Male Pedigree
OAI-PMH
oai:serval.unil.ch:BIB_869D064D22F5
Pubmed
2641130
Create date
28/01/2008 14:09
Last modification date
20/08/2019 15:45
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