Data/hora: 09/06/2024 09:37:30

Provedor de dados: | 74
País: | Brazil
Título: | Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation
Autores: | Karam,Simone M.; Costa,Jaderson C.; Jardim,Laura; Pires,Ricardo F.; Lehmann,Alan R.; Giugliani,Roberto.
Data: | 2000-06-01
Ano: | 2000
Resumo: | Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance. In the present study we report the first Brazilian CS family in which diagnosis was confirmed by the demonstration of decreased RNA synthesis in cultured fibroblasts exposed to UV-C radiation. Despite the progressive course of the disease and the unavailability of an effective treatment, diagnosis may be very important for the benefits to be gained by the afflicted family from genetic counseling and/or prenatal diagnosis.
Tipo: | Info:eu-repo/semantics/other
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200005
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572000000200005
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.23 n.2 2000
Fonte: | info:eu-repo/semantics/openAccess