Clinical characteristics of patients with SALL1-related disorder
SALL1-related disorders exhibit broad phenotypic variability. Some cases present with atypical features overlapping with TBS BOR-like syndrome or isolated CAKUT, rather than with typical TBS1. These findings enhance the understanding and diagnosis of SALL1-related disorders.
Authors
- Kandai Nozu (ORCID: https://orcid.org/0000-0002-0290-3137)
- Hiroaki Hanafusa (ORCID: https://orcid.org/0000-0002-6636-7724)
- China Nagano (ORCID: https://orcid.org/0000-0003-4946-1345)
- Kazumoto Iijima (ORCID: https://orcid.org/0000-0003-0378-8174)
- Yu Tanaka (ORCID: https://orcid.org/0000-0001-5107-2491)
- Yoshitaka Asagai
- Shingo Ishimori (ORCID: https://orcid.org/0000-0003-3863-2743)
- H. Kaito
- Tomoko Horinouchi (ORCID: https://orcid.org/0000-0003-1655-6030)
- Naoya Morisada (ORCID: https://orcid.org/0000-0003-2936-6615)
Institutions
- Kobe Children's Hospital (JP)
- Kobe University (JP)
Publication Details
- Journal
- Pediatric Nephrology
- Published
- 2025-07-14
- DOI
- https://doi.org/10.1007/s00467-025-06878-z
- Citations
- 2
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 1.61
Funders
- Japan Agency for Medical Research and Development
- Kobe University
- Japan Society for the Promotion of Science