Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias

Genetic skeletal dysplasias (GSDs) are a type of disease with complex phenotype and high heterogeneity, characterized by cartilage and bone growth abnormalities. The variable phenotypes of GSD make clinical diagnosis difficult. To explore the clinical utility of targeted exome sequencing (TES) in th...

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Detalles Bibliográficos
Autores principales: Lv, Shanshan, Zhao, Jiao, Xi, Lei, Lin, Xiaoyun, Wang, Chun, Yue, Hua, Gu, Jiemei, Hu, Weiwei, Fu, Wenzhen, Wei, Zhanying, Zhang, Hao, Hu, Yunqiu, Li, Shanshan, Zhang, Zhenlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8452955/
https://www.ncbi.nlm.nih.gov/pubmed/34557487
http://dx.doi.org/10.3389/fcell.2021.715042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8452955/
https://www.ncbi.nlm.nih.gov/pubmed/34557487
http://dx.doi.org/10.3389/fcell.2021.715042

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