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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6537022/
https://www.ncbi.nlm.nih.gov/pubmed/31218223
http://dx.doi.org/10.1155/2019/2492590

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