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...

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Publicado no:Sci Rep
Main Authors: Guo, Ting, Tan, Zhi-Ping, Chen, Hua-Mei, Zheng, Dong-yuan, liu, Lv, Huang, Xin-Gang, Chen, Ping, Luo, Hong, Yang, Yi-Feng
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5554225/
https://ncbi.nlm.nih.gov/pubmed/28801648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-08510-z
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