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EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis

Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances. In most cases, EXT1 and EXT2, which encode glycosyltransferases involved in the biosynthesis of heparan sulfate, are the...

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Detalles Bibliográficos
Autores principales:	Wang, Ye, Zhong, Liangying, Xu, Yan, Ding, Lei, Ji, Yuanjun, Schutz, Sacha, Férec, Claude, Cooper, David N., Xu, Caixia, Chen, Jian-Min, Luo, Yanmin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783290/ https://www.ncbi.nlm.nih.gov/pubmed/33414810 http://dx.doi.org/10.3389/fgene.2020.607838

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