ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia: e0148067

• Published in: PloS one Vol. 11; no. 1
• Main Authors: Kurkowiak, Malgorzata, Zietkiewicz, Ewa, Greber, Agnieszka, Voelkel, Katarzyna, Wojda, Alina, Pogorzelski, Andrzej, Witt, Michal
• Format: Journal Article
• Language: English
• Published: 01.01.2016

Primary ciliary dyskinesia (PCD) is a rare recessive disease with a prevalence of 1/10,000; its symptoms are caused by a kinetic dysfunction of motile cilia in the respiratory epithelium, flagella in spermatozoids, and primary cilia in the embryonic node. PCD is genetically heterogeneous: genotyping...