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A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate

Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the metaphyseal region of the long bones. Over 70% of HME cases arise from monoallelic mutations in either of the two genes encoding the heparan sulfa...

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Detalles Bibliográficos
Autores principales:	Xian, Caixia, Zhu, Mingwei, Nong, Tianying, Li, Yiqiang, Xie, Xingmei, Li, Xia, Li, Jiangui, Li, Jingchun, Wu, Jianping, Shi, Weizhe, Wei, Ping, Xu, Hongwen, Tang, Ya-ping
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2021
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156126/ https://www.ncbi.nlm.nih.gov/pubmed/34042151 http://dx.doi.org/10.1590/1678-4685-GMB-2020-0334

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