Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

The clinical spectrum of ciliopathies affecting motile cilia spans impaired mucociliary clearance in the respiratory system, laterality defects including heart malformations, infertility and hydrocephalus. Using linkage analysis and whole exome sequencing, we identified two recessive loss-of-functio...

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Pubblicato in:PLoS Genet
Autori principali: Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim, Letteboer, Stef J. F., Antony, Dinu, Darwish, Alaa, Mans, Dorus A., Spittler, Sabrina, Edelbusch, Christine, Cindrić, Sandra, Nöthe-Menchen, Tabea, Olbrich, Heike, Stuhlmann, Friederike, Aprea, Isabella, Pennekamp, Petra, Loges, Niki T., Breuer, Oded, Shaag, Avraham, Rein, Azaria J. J. T., Gulec, Elif Yilmaz, Gezdirici, Alper, Abitbul, Revital, Elias, Nael, Amirav, Israel, Schmidts, Miriam, Roepman, Ronald, Elpeleg, Orly, Omran, Heymut
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2018
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6128653/
https://ncbi.nlm.nih.gov/pubmed/30148830
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007602
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