Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT-2 gene deletion mutation

The aim of the present study was to report a clinical survey of hereditary multiple exostoses (HME) in a large Chinese pedigree, and the identification of a novel deletion mutation of exostosin glycosyltransferase 2 (EXT-2) gene. A patient with multiple exostoses with huge cartilage-capped tumors in...

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Detalles Bibliográficos
Autores principales: Wang, Wentao, Yang, Mingyuan, Shen, Yuhang, Chen, Kai, Wu, Donghua, Yang, Changwei, Bai, Jinyi, He, Dawei, Gao, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915398/
https://www.ncbi.nlm.nih.gov/pubmed/35211766
http://dx.doi.org/10.3892/mmr.2022.12657

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8915398/
https://www.ncbi.nlm.nih.gov/pubmed/35211766
http://dx.doi.org/10.3892/mmr.2022.12657

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