Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21

Detalhes bibliográficos
Autor(a) principal: Balemans, Wendy
Data de Publicação: 1999
Outros Autores: 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
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/13482
Resumo: Texto completo. Acesso restrito. p. 1661–1669
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spelling Balemans, WendyEnde, Jenneke Van DenAlves, Auristela Freire PaesDikkers, Frederik G.Willems, Patrick J.Vanhoenacker, FilipMelo, Neli Almeida deAlves, Cristiane FreireStratakis, Constantine A.Hill, Suvimol C.Hul, Wim VanBalemans, WendyEnde, Jenneke Van DenAlves, Auristela Freire PaesDikkers, Frederik G.Willems, Patrick J.Vanhoenacker, FilipMelo, Neli Almeida deAlves, Cristiane FreireStratakis, Constantine A.Hill, Suvimol C.Hul, Wim Van2013-11-01T11:57:18Z19991434-5161http://repositorio.ufba.br/ri/handle/ri/13482v. 64, n. 6Texto completo. Acesso restrito. p. 1661–1669Sclerosteosis 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.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: 1999SalvadorJournal of Human Geneticshttp://dx.doi.org.ez10.periodicos.capes.gov.br/10.1086/302416reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBASclerosteosisvan Buchem diseaseHyperostosisChromosome 17Bone densityLocalization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21Journal of Human Geneticsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINAL111111111a.pdf111111111a.pdfapplication/pdf683501https://repositorio.ufba.br/bitstream/ri/13482/1/111111111a.pdf978acc94ebde8e6074df25c384a75ff8MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13482/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXT111111111a.pdf.txt111111111a.pdf.txtExtracted texttext/plain30595https://repositorio.ufba.br/bitstream/ri/13482/3/111111111a.pdf.txt6ad212722b92e7668821e97ffa9e139cMD53ri/134822022-09-23 09:16:14.094oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-09-23T12:16:14Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
dc.title.alternative.pt_BR.fl_str_mv Journal of Human Genetics
title Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
spellingShingle Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
Balemans, Wendy
Sclerosteosis
van Buchem disease
Hyperostosis
Chromosome 17
Bone density
title_short Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
title_full Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
title_fullStr Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
title_full_unstemmed Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
title_sort Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21
author Balemans, Wendy
author_facet 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv 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
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
dc.subject.por.fl_str_mv Sclerosteosis
van Buchem disease
Hyperostosis
Chromosome 17
Bone density
topic Sclerosteosis
van Buchem disease
Hyperostosis
Chromosome 17
Bone density
description Texto completo. Acesso restrito. p. 1661–1669
publishDate 1999
dc.date.issued.fl_str_mv 1999
dc.date.accessioned.fl_str_mv 2013-11-01T11:57:18Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13482
dc.identifier.issn.none.fl_str_mv 1434-5161
dc.identifier.number.pt_BR.fl_str_mv v. 64, n. 6
identifier_str_mv 1434-5161
v. 64, n. 6
url http://repositorio.ufba.br/ri/handle/ri/13482
dc.language.iso.fl_str_mv eng
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dc.publisher.none.fl_str_mv Journal of Human Genetics
publisher.none.fl_str_mv Journal of Human Genetics
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