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 |
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| Jazyk: | angličtina |
| Rok vydání: | 1999 |
| Předmět: | |
| Zdroj: | Repositório Institucional da UFBA Universidade Federal da Bahia (UFBA) instacron:UFBA |
| DOI: | 10.1086/302416 |
| Popis: | Texto completo. Acesso restrito. p. 1661–1669 Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-07-31T18:06:01Z No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-01T11:57:18Z (GMT) No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Made available in DSpace on 2013-11-01T11:57:18Z (GMT). No. of bitstreams: 1 111111111a.pdf: 683501 bytes, checksum: 978acc94ebde8e6074df25c384a75ff8 (MD5) Previous issue date: 1999 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. Salvador |
| Databáze: | OpenAIRE |
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