Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel DRC1 Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia

Objective: Whole-exome sequencing (WES) based copy number variation (CNV) analysis has been reported to improve the diagnostic rate in rare genetic diseases. In this study, we aim to find the disease-associated variants in a highly suspected primary ciliary dyskinesia (PCD) patient without a genetic...

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Detalles Bibliográficos
Autores principales: Liu, Ying, Lei, Cheng, Wang, Rongchun, Yang, Danhui, Yang, Binyi, Xu, Yingjie, Lu, Chenyang, Wang, Lin, Ding, Shuizi, Guo, Ting, Liu, Shaokun, Luo, Hong
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/PMC9298917/
https://www.ncbi.nlm.nih.gov/pubmed/35873463
http://dx.doi.org/10.3389/fgene.2022.940292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9298917/
https://www.ncbi.nlm.nih.gov/pubmed/35873463
http://dx.doi.org/10.3389/fgene.2022.940292

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