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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Veröffentlicht in:	European journal of human genetics : EJHG 2020-01, Vol.28 (1), p.50-55
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Female Frameshift Mutation Humans Infertility Infertility, Male - genetics Inversion Male Middle Aged Pedigree Polymorphism, Single Nucleotide Situs Inversus - genetics
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