Table 1: Diagnostic Characteristics

PAFF, Tamara, et al. Mutations in PIH1D3 cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects. The American Journal of Human Genetics, 2017, 100. Jg., Nr. 1, S. 160-168.

Publication: https://doi.org/10.1016/j.ajhg.2016.11.019

Description

Abbreviations:
EM: electron microscopy
HSVM: high-speed videomicroscopy
nNO: nasal nitric oxide
SI: situs inversus
ODA: outer dynein arm
IDA: inner dynein arm

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The publication Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects by 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 is published under an open access no derivatives license: : https://creativecommons.org/licenses/by-nc-nd/4.0/. Granted rights: share — copy and redistribute the material in any medium or format. No alterations allowed. Thus, tables can not be shown in MFGA format.

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