Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease
The <i>PKHD1</i> variant c.2713C>A; p.Gln905Lys may contribute to an ARPKD phenotype with a delayed juvenile onset.
Authors
- Lauren Hawkins
- Jonathan Marquez (ORCID: https://orcid.org/0000-0003-3377-7599)
- Anita E. Beck (ORCID: https://orcid.org/0000-0002-7965-0326)
- Ian A. Glass (ORCID: https://orcid.org/0000-0001-6762-8407)
- Alexandra Keefe (ORCID: https://orcid.org/0009-0009-2455-1687)
- Elizabeth Dong Nguyen (ORCID: https://orcid.org/0000-0002-2798-6581)
- Katrina M. Dipple
Institutions
- Seattle Children's Hospital (US)
- University of Washington (US)
- Seattle Children's Hospital (US)
- Brotman Baty Institute (US)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-11-03
- DOI
- https://doi.org/10.3389/fped.2025.1677417
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00