Article
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
The European respiratory journal - 1 Aug 2024
Raidt Johanna, Riepenhausen Sarah, Pennekamp Petra, Olbrich Heike, Amirav Israel, Athanazio Rodrigo A, Aviram Micha, Balinotti Juan E, Bar-On Ophir, Bode Sebastian F N, Boon Mieke, Borrelli Melissa, Carr Siobhan B, Crowley Suzanne, Dehlink Eleonora, Diepenhorst Sandra, Durdik Peter, Dworniczak Bernd, Emiralioğlu Nagehan, Erdem Ela, Fonnesu Rossella, Gracci Serena, Große-Onnebrink Jörg, Gwozdziewicz Karolina, Haarman Eric G, Hansen Christine R, Hogg Claire, Holgersen Mathias G, Kerem Eitan, Körner Robert W, Kötz Karsten, Kouis Panayiotis, Loebinger Michael R, Lorent Natalie, Lucas Jane S, Maj Debora, Mall Marcus A, Marthin June K, Martinu Vendula, Mazurek Henryk, Mitchison Hannah M, Nöthe-Menchen Tabea, Özçelik Ugur, Pifferi Massimo, Pogorzelski Andrzej, Ringshausen Felix C, Roehmel Jobst F, Rovira-Amigo Sandra, Rumman Nisreen, Schlegtendal Anne, Shoemark Amelia, Sperstad Kennelly Synne, Staar Ben O, Sutharsan Sivagurunathan, Thomas Simon, Ullmann Nicola, Varghese Julian, von Hardenberg Sandra, Walker Woolf T, Wetzke Martin, Witt Michal, Yiallouros Panayiotis, Zschocke Anna, Ziętkiewicz Ewa, Nielsen Kim G, Omran Heymut
Abstract excerpt
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes. METHODS: Genetic variants and clinical findings (age, sex, body...
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