Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Summary

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Authors: Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha

Journal title: The American Journal of Human Genetics

Journal number: 100/1

Journal publisher: University of Chicago Press

Published year: 2017

Published pages: 160-168

DOI identifier: 10.1016/j.ajhg.2016.11.019

ISSN: 0002-9297