Identification of Pathogenic PKHD1 Variants in Infants with Autosomal Recessive Polycystic Kidney Disease from the Dhofar Region, Oman
This study reveals distinct <i>PKHD1</i> disease-causing variants in the Dhofar region of Oman, contributing to the broader genetic understanding of ARPKD. These findings highlight the value of region-specific genetic research in identifying new disease causing variants.
Authors
- J. Galvis
- Maha Al Awadi
- Intisar Al Alawi
- Joshua Pillai (ORCID: https://orcid.org/0000-0002-2477-1868)
- John Andrew Sayer (ORCID: https://orcid.org/0000-0003-1881-3782)
- Matthew Gordon Sampson (ORCID: https://orcid.org/0000-0001-9560-076X)
- Ashwaq Al Maimani
- Fatma Al Awaid
- Zainab Al Hashmi
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- Sultan Qaboos Hospital (OM)
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Ministry of Health (OM)
- NIHR Newcastle Biomedical Research Centre (GB)
- Ministry of Agriculture and Fisheries (OM)
- Newcastle University (GB)
Publication Details
- Journal
- F1000Research
- Published
- 2025-11-05
- DOI
- https://doi.org/10.12688/f1000research.171123.1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- LifeArc
- UK Research and Innovation
- Kidney Research UK
- European Commission
- Northern Counties Kidney Research Fund
- HORIZON EUROPE Framework Programme
- Medical Research Council