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Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia

Skeletal dysplasia is a complex group of bone and cartilage disorders with strong clinical and genetic heterogeneity. Several types have prenatal phenotypes, and it is difficult to make a molecular diagnosis rapidly. In this study, the genetic cause of 16 Chinese fetuses with skeletal dysplasia were...

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Detalles Bibliográficos
Autores principales:	Tang, Hui, Zhang, Qin, Xiang, Jingjing, Yin, Linliang, Wang, Jing, Wang, Ting
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7987927/ https://www.ncbi.nlm.nih.gov/pubmed/33777089 http://dx.doi.org/10.3389/fgene.2021.599863

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