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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Bibliographic Details
Published in: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.
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2019
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Online Access: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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