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

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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Bibliographic Details
Main Authors: Shanshan Lv, Jiao Zhao, Lei Xi, Xiaoyun Lin, Chun Wang, Hua Yue, Jiemei Gu, Weiwei Hu, Wenzhen Fu, Zhanying Wei, Hao Zhang, Yunqiu Hu, Shanshan Li, Zhenlin Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
targeted exome sequencing
genetic skeletal dysplasia
molecular diagnosis
genetics evaluation
clinical utility
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.715042/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.715042/full

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