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Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

BACKGROUND: This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia. METHODS: A total of 30 cases of fetal skeletal dysplasia detected with ultrasound between January 2014 and June 2017...

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Detalles Bibliográficos
Autores principales: Liu, Yan, Wang, Li, Yang, Yi-Ke, Liang, Ying, Zhang, Tie-Juan, Liang, Na, Yang, Li-Man, Li, Si-Jing, Shan, Dan, Wu, Qing-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626426/
https://www.ncbi.nlm.nih.gov/pubmed/31299979
http://dx.doi.org/10.1186/s13000-019-0853-x