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BIBTEX RIS

Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations

2024; European Respiratory Society; Volume: 64; Issue: 2 Linguagem: Inglês

10.1183/13993003.01769-2023

ISSN

1399-3003

Autores

Johanna Raidt, Sarah Riepenhausen, Petra Pennekamp, Heike Olbrich, Israel Amirav, Rodrigo Abensur Athanazio, Micha Aviram, Juan E. Balinotti, O. Baron, Sebastian F. N. Bode, Mieke Boon, Melissa Borrelli, S.B. Carr, Suzanne Crowley, Eleonora Dehlink, Sandra Diepenhorst, Peter Ďurdík, Bernd Dworniczak, Nagehan Emiralioğlu, Ela Erdem Eralp, Rossella Fonnesu, Serena Gracci, Jörg Große-Onnebrink, Karolina Gwozdziewicz, Eric G. Haarman, C.R. Hansen, Claire Hogg, Mathias Geldermann Holgersen, Eitan Kerem, Robert Walter Körner, Karsten Kötz, Panayiotis Kouis, Michael R. Loebinger, Natalie Lorent, Jane S. Lucas, Debora Maj, Marcus Mall, June K. Marthin, Vendula Martinů, Henryk Mazurek, Hannah M. Mitchison, Tabea Nöthe-Menchen, Uğur Özçelik, Massimo Pifferi, Andrzej Pogorzelski, Felix C. Ringshausen, Jobst Roehmel, Sandra Rovira‐Amigo, Nisreen Rumman, Anne Schlegtendal, Amelia Shoemark, Synne Sperstad Kennelly, Ben O. Staar, Sivagurunathan Sutharsan, Simon Thomas, Nicola Ullmann, Julian Varghese, Sandra von Hardenberg, Woolf T. Walker, Martin Wetzke, Michał Witt, Panayiotis K. Yiallouros, Anna Zschocke, Ewa Zi�etkiewicz, Kim G. Nielsen, Heymut Omran,

Tópico(s)

Tracheal and airway disorders

Resumo

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.

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