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

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: F...

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Detalles Bibliográficos
Autores principales: Liu, Wanlu, Cao, Jing, Shi, Xinwei, Li, Yuqi, Qiao, Fuyuan, Wu, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599061/
https://www.ncbi.nlm.nih.gov/pubmed/37875969
http://dx.doi.org/10.1186/s13023-023-02955-4