Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

doi:10.1016/j.ajhg.2018.03.025

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Article

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

American journal of human genetics - 3 May 2018

Höben Inga M, Hjeij Rim, Olbrich Heike, Dougherty Gerard W, Nöthe-Menchen Tabea, Aprea Isabella, Frank Diana, Pennekamp Petra, Dworniczak Bernd, Wallmeier Julia, Raidt Johanna, Nielsen Kim G, Philipsen Maria C, Santamaria Francesca, Venditto Laura, Amirav Israel, Mussaffi Huda, Prenzel Freerk, Wu Kaman, Bakey Zeineb, Schmidts Miriam, Loges Niki T, Omran Heymut

Abstract excerpt

Primary ciliary dyskinesia (PCD) is characterized by chronic airway disease, male infertility, and randomization of the left/right body axis as a result of defects of motile cilia and sperm flagella. We identified loss-of-function mutations in the open-reading frame C11orf70 in PCD individuals from five distinct families. Transmission electron microscopy analyses and high-resolution immunofluorescence microscopy...

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PMID: 29727693
DOI: 10.1016/j.ajhg.2018.03.025
PMCID: PMC5986731

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DNAAF2

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