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

24 Oct 2023

Abstract excerpt

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. METHODS: From September 2015 to April 2021, the study investigated 24 cases with suspected short-limb fetuses, which were...

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Connective tissue disorders research
Craniofacial Disorders and Treatments
Neurogenetic and Muscular Disorders Research

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37875969
DOI: 10.1186/s13023-023-02955-4

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