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metadata.dc.type: | Artigo de Periódico |
Título : | Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21 |
Otros títulos : | Journal of Human Genetics |
Autor : | Balemans, Wendy Ende, Jenneke Van Den Alves, Auristela Freire Paes Dikkers, Frederik G. Willems, Patrick J. Vanhoenacker, Filip Melo, Neli Almeida de Alves, Cristiane Freire Stratakis, Constantine A. Hill, Suvimol C. Hul, Wim Van |
metadata.dc.creator: | Balemans, Wendy Ende, Jenneke Van Den Alves, Auristela Freire Paes Dikkers, Frederik G. Willems, Patrick J. Vanhoenacker, Filip Melo, Neli Almeida de Alves, Cristiane Freire Stratakis, Constantine A. Hill, Suvimol C. Hul, Wim Van |
Resumen : | Sclerosteosis is an uncommon, autosomal recessive, progressive, sclerosing, bone dysplasia characterized by generalized osteosclerosis and hyperostosis of the skeleton, affecting mainly the skull and mandible. In most patients this causes facial paralysis and hearing loss. Other features are gigantism and hand abnormalities. In the present study, linkage analysis in two consanguineous families with sclerosteosis resulted in the assignment of the sclerosteosis gene to chromosome 17q12-q21. This region was analyzed because of the recent assignment to this chromosomal region of the gene causing van Buchem disease, a rare autosomal recessive condition with a hyperostosis similar to sclerosteosis. Because of the clinical similarities between sclerosteosis and van Buchem disease, it has previously been suggested that both conditions might be caused by mutations in the same gene. Our study now provides genetic evidence for this hypothesis. |
Palabras clave : | Sclerosteosis van Buchem disease Hyperostosis Chromosome 17 Bone density |
Editorial : | Journal of Human Genetics |
metadata.dc.rights: | Acesso Aberto |
URI : | http://repositorio.ufba.br/ri/handle/ri/13482 |
Fecha de publicación : | 1999 |
Aparece en las colecciones: | Artigo Publicado em Periódico (Faculdade de Medicina) |
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