Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3
We present a rare case of HPS-related IBD resulting from a homozygous variant in <i>HPS3</i> and provide insights into the understanding of the diagnosis and treatment of HPS3.
Authors
- Bocheng Xu (ORCID: https://orcid.org/0000-0001-5403-0991)
- Shanling Liu (ORCID: https://orcid.org/0000-0001-8788-7991)
- Jesper Mai
- Zhu Zhang (ORCID: https://orcid.org/0000-0002-7489-6917)
- Hao Wang (ORCID: https://orcid.org/0000-0001-9301-5989)
- Shaofeng Wang (ORCID: https://orcid.org/0000-0001-6989-336X)
- Shuo Yang (ORCID: https://orcid.org/0000-0002-5155-6768)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-03-19
- DOI
- https://doi.org/10.3389/fgene.2025.1465527
- Primary Topic
- melanin and skin pigmentation
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Sichuan Province
- National Key Research and Development Program of China