Investigating genotype‐phenotype correlations in primary ciliary dyskinesia: a sibling cohort study
High concordance rates for certain mutations in clinical features suggest potential genotype-phenotype correlations, in contrast to weak concordance in lung function. Challenges remain in establishing direct correlations between genetic mutations and clinical outcomes.
Authors
- Dvir Gatt (ORCID: https://orcid.org/0000-0001-8666-5115)
- Guy Hazan (ORCID: https://orcid.org/0000-0002-7372-6262)
- Inbal Golan‐Tripto (ORCID: https://orcid.org/0000-0001-6259-405X)
- Eran Levanon (ORCID: https://orcid.org/0009-0002-1762-2343)
- Micha Aviram
- Aviv Goldbart (ORCID: https://orcid.org/0000-0002-7063-4653)
Institutions
- Ben-Gurion University of the Negev (IL)
- Soroka Medical Center (IL)
Publication Details
- Journal
- Pediatric Pulmonology
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1002/ppul.27263
- Citations
- 1
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.42