Title: Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms
Authors: Zuzanna Bukowy-Bieryllo, Alicja Rabiasz, Maciej Dabrowski, Andrzej Pogorzelski, Alina Wojda, Hanna Dmenska, Katarzyna Grzela, Jakub Sroczynski, Michal Witt, Ewa Zietkiewicz
Journal: Journal of Medical genetics
Publication type: article
DOI: 10.1136/jmedgenet-2018-105918.