Genotype‐Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia
Our study further highlights the high heterogeneity of ultrastructural defects and genetics characterizing patients with PCD, as well as providing additional evidence that patients with biallelic pathogenic variants in CCDC39 or CCDC40 display a worse clinical phenotype than patients with pathogenic variants in other PCD genes.
Authors
- Raffaella Nenna (ORCID: https://orcid.org/0000-0001-8880-3462)
- Piercarlo Poli (ORCID: https://orcid.org/0000-0002-6417-4216)
- Laura Petrarca (ORCID: https://orcid.org/0000-0002-2430-2981)
- Giuseppe Cimino (ORCID: https://orcid.org/0000-0002-7781-0816)
- Laura Bernardini (ORCID: https://orcid.org/0000-0002-3554-2817)
- Valentina Guida (ORCID: https://orcid.org/0000-0003-3946-645X)
- Alessandro De Luca (ORCID: https://orcid.org/0000-0002-4408-8062)
- Marina Goldoni (ORCID: https://orcid.org/0000-0002-5196-9618)
- Enrica Mancino (ORCID: https://orcid.org/0000-0003-2756-0094)
- Maria Giulia Conti (ORCID: https://orcid.org/0000-0001-8659-4652)
- Laura Masuelli (ORCID: https://orcid.org/0000-0001-8174-8034)
- Fabio Midulla (ORCID: https://orcid.org/0000-0001-7476-5266)
Institutions
- Casa Sollievo della Sofferenza (IT)
- Policlinico Umberto I (IT)
- University of Brescia (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Pediatric Pulmonology
- Published
- 2025-04-01
- DOI
- https://doi.org/10.1002/ppul.71057
- Citations
- 3
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 4.56