An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort

Craniosynostosis (CRS) is a disease with prematurely fused cranial sutures. In the last decade, the whole-exome sequencing (WES) was widely used in Caucasian populations. The WES largely contributed in genetic diagnosis and exploration on new genetic mechanisms of CRS. In this study, we enrolled 264...

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Detalles Bibliográficos
Autores principales: Chen, Jieyi, Zhang, Ping, Peng, Meifang, Liu, Bo, Wang, Xiao, Du, Siyuan, Lu, Yao, Mu, Xiongzheng, Lu, Yulan, Wang, Sijia, Wu, Yingzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481236/
https://www.ncbi.nlm.nih.gov/pubmed/36118902
http://dx.doi.org/10.3389/fgene.2022.967688

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9481236/
https://www.ncbi.nlm.nih.gov/pubmed/36118902
http://dx.doi.org/10.3389/fgene.2022.967688

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