A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis

Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones. 3 genes are known to be involved in the formation of exostoses. Among them, EXT1 and EXT2,...

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Detalhes bibliográficos
Main Authors: Xiao, C Y, Wang, J, Zhang, S Z, Hul, W Van, Wuyts, W, Qiu, W M, Wu, H, Zhang, G
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2001
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2364055/
https://ncbi.nlm.nih.gov/pubmed/11461073
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1054/bjoc.2001.1880
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