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

Internet

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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