An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress, chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD is a result of mutations in genes encoding proteins involved in ciliary function, and is primarily inherite...

Descripción completa

Detalles Bibliográficos
Autores principales: Guo, Ting, Tan, Zhi-Ping, Chen, Hua-Mei, Zheng, Dong-yuan, liu, Lv, Huang, Xin-Gang, Chen, Ping, Luo, Hong, Yang, Yi-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554225/
https://www.ncbi.nlm.nih.gov/pubmed/28801648
http://dx.doi.org/10.1038/s41598-017-08510-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554225/
https://www.ncbi.nlm.nih.gov/pubmed/28801648
http://dx.doi.org/10.1038/s41598-017-08510-z

Ejemplares similares