Aniridie, une famille a degre de penetrance faible. [Aniridia in a family characterized by low penetration]

Détails

ID Serval
serval:BIB_63130B7EE723
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Aniridie, une famille a degre de penetrance faible. [Aniridia in a family characterized by low penetration]
Périodique
Journal de Genetique Humaine
Auteur⸱e⸱s
Balmer  A., Zografos  L.
ISSN
0181-5512
1015-8146
0021-7743 (Print)
Statut éditorial
Publié
Date de publication
02/1981
Volume
28
Numéro
5
Pages
195-200
Notes
Case Reports
English Abstract
Journal Article --- Old month value: Feb
Résumé
Familial aniridia is an hereditary condition with dominant transmission. The frequency of associated lesions appears to indicate that absence of the iris is only the primary sign of an anomaly of development of the entire eye, derivatives of the ectoderm being predominantly affected. The authors examined the presence of familial anridia through 4 generations, characterized by low penetration and cataract predominantly of the right eye.
Mots-clé
Adult Aged Cataract/*genetics Child, Preschool Female Genes, Dominant Humans Iris/*abnormalities Male Middle Aged
Pubmed
Web of science
Création de la notice
28/01/2008 14:09
Dernière modification de la notice
20/08/2019 15:19
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