Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing

BACKGROUND: Hereditary multiple exostoses (HME), a rare genetic pediatric disorder, has a peculiar pathogenic mechanism. The results of previous studies have shown that HME is associated with mutations of the EXT1 and EXT2 genes at a molecular genetics level. In our study, two families who received...

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Detalles Bibliográficos
Autores principales: Shen, Yang, Zhang, Lei, Chen, Bosong, Dong, Liangchao, Wang, Yicheng, Wang, Sun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658772/
https://www.ncbi.nlm.nih.gov/pubmed/33209724
http://dx.doi.org/10.21037/tp-20-191

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