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Use este identificador para citar ou linkar para este item: https://repositorio.ufba.br/handle/ri/13482
Tipo: Artigo de Periódico
Título: Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
Título(s) alternativo(s): Journal of Human Genetics
Autor(es): 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
Autor(es): 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
Abstract: 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.
Palavras-chave: Sclerosteosis
van Buchem disease
Hyperostosis
Chromosome 17
Bone density
Editora / Evento / Instituição: Journal of Human Genetics
Tipo de Acesso: Acesso Aberto
URI: http://repositorio.ufba.br/ri/handle/ri/13482
Data do documento: 1999
Aparece nas coleções:Artigo Publicado em Periódico (Faculdade de Medicina)

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