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Application of whole exome sequencing in fetal cases with skeletal abnormalities

OBJECTIVES: To investigate the role of whole exome sequencing (WES) technology in fetuses with skeletal abnormalities (SKA) for establishing an appropriate clinical diagnosis and treatment path. METHODS: From April 2019 to August 2020, eight special families were enrolled into the study. Their fetus...

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Detalles Bibliográficos
Autores principales:	Cao, Juan, Chen, An'er, Tian, Liyun, Yan, Lulu, Li, Haibo, Zhou, Bihua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287157/ https://www.ncbi.nlm.nih.gov/pubmed/35855989 http://dx.doi.org/10.1016/j.heliyon.2022.e09819

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