Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced mucociliary clearance caused by defective multiple motile cili...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2018
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6288205/
https://ncbi.nlm.nih.gov/pubmed/30471718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.020
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