[Intrafamilial variation in congenital ophthalmoplegia: studies in a Sicilian family]. / Variabilite intrafamiliale de l'ophtalmoplegie externe congenitale: etude d'une famille sicilienne.
J Genet Hum
; 28(1): 23-30, 1980 Mar.
Article
em Fr
| MEDLINE
| ID: mdl-7400782
ABSTRACT
Nine members of a Sicilian family, in four successive generations, showed a congenital eye defect of much variable severity, from simple blepharoptosis to complete external ophthalmoplegia, without other ocular or extraocular abnormalities. The anomaly in this pedigree was transmitted as an autosomal dominant character with incomplete penetrance and extremely variable expressivity.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
/
Oftalmoplegia
/
Genes Dominantes
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
Fr
Ano de publicação:
1980
Tipo de documento:
Article