Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing

Skeletal dysplasias (SDs) comprise a series of severe congenital disorders that have strong clinical heterogeneity and usually attribute to diverse genetic variations. The pathogenesis of more than half of SDs remains unclear. Additionally, the clinical manifestations of fetal SDs are ambiguous, whi...

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Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Yang, Kai, Shen, Ming, Yan, Yousheng, Tan, Ya, Zhang, Jing, Wu, Jue, Yang, Guangming, Li, Shang, Wang, Jing, Ren, Zhuo, Dong, Zhe, Wang, Shan, Zhang, Manli, Tian, Yaping
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6537022/
https://ncbi.nlm.nih.gov/pubmed/31218223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/2492590
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