MNS1 variant associated with situs inversus and male infertility

Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a combination of genome-wide SNP mapping and whole exome sequencing (WES), we investig...

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Publicado en:Eur J Hum Genet
Main Authors: Leslie, Joseph S., Rawlins, Lettie E., Chioza, Barry A., Olubodun, Oluwaseun R., Salter, Claire G., Fasham, James, Jones, Hannah F., Cross, Harold E., Lam, Simon, Harlalka, Gaurav V., Muggenthaler, Martina M. A., Crosby, Andrew H., Baple, Emma L.
Formato: Artigo
Idioma:Inglês
Publicado: Springer International Publishing 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6906318/
https://ncbi.nlm.nih.gov/pubmed/31534215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0489-z
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