A monozygotic twin pair with highly discordant Gaucher phenotypes.
Blood Cells Mol Dis
; 46(1): 39-41, 2011 Jan 15.
Article
em En
| MEDLINE
| ID: mdl-21056933
ABSTRACT
We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1 diabetes mellitus. The concurrence of a mild Gaucher mutation with a severe phenotype, as well as the occurrence of highly discordant phenotypes in a pair of monozygotic twins, is discussed.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Gêmeos Monozigóticos
/
Doenças Cerebelares
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Diabetes Mellitus Tipo 1
/
Doenças em Gêmeos
/
Doença de Gaucher
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
País/Região como assunto:
Africa
Idioma:
En
Revista:
Blood Cells Mol Dis
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Holanda