Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members

Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2). The goal of this study was to elucidate the genetic alterat...

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Detalles Bibliográficos
Autores principales: Zhuang, Lei, Gerber, Simon D., Kuchen, Stefan, Villiger, Peter M., Trueb, Beat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723372/
https://www.ncbi.nlm.nih.gov/pubmed/26839764
http://dx.doi.org/10.1186/s40064-016-1695-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4723372/
https://www.ncbi.nlm.nih.gov/pubmed/26839764
http://dx.doi.org/10.1186/s40064-016-1695-6

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