Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases

Background: Skeletal dysplasias (SDs) are a heterogeneous group of genetic disorders that primarily affect bone and cartilage. This study aims to identify the genetic causes for fetal SDs, and evaluates the diagnostic yield of prenatal whole-exome sequencing (WES) for this disorder. Methods: WES was...

Descripción completa

Detalles Bibliográficos
Autores principales: Peng, Ying, Yang, Shuting, Huang, Xiaoliang, Pang, Jialun, Liu, Jing, Hu, Jiancheng, Shen, Xinzhao, Tang, Chengyuan, Wang, Hua
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/PMC8461062/
https://www.ncbi.nlm.nih.gov/pubmed/34567078
http://dx.doi.org/10.3389/fgene.2021.728544

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8461062/
https://www.ncbi.nlm.nih.gov/pubmed/34567078
http://dx.doi.org/10.3389/fgene.2021.728544

Ejemplares similares