Genetic testing and diagnostic strategies of fetal skeletal dysplasia: a preliminary study in Wuhan, China

Abstract Background Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonographic examination and genetic testing for fetal skeletal dysplasia. Me...

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Bibliographic Details
Main Authors: Wanlu Liu, Jing Cao, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu
Format: Article
Language:English
Published: BMC 2023-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-023-02955-4