Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins
This case expands the phenotypic spectrum of CRB2-related disease, highlights management challenges, and underscores the need for genetic re-analysis in rare diseases. Further research is required to understand CRB2-related mechanisms.
Authors
- Shirley Pollack (ORCID: https://orcid.org/0000-0002-9129-3165)
- Moran Plonsky-Toder (ORCID: https://orcid.org/0009-0003-8489-715X)
- Mika Shapira Rootman (ORCID: https://orcid.org/0000-0002-6758-7673)
- Renata Yakubov
- Rami Tibi
- Israel Eisenstein
- Irina Libinson-Zebegret
- Daniella Magen
Institutions
- Technion – Israel Institute of Technology (IL)
- Rambam Health Care Campus (IL)
- Rappaport Family Institute for Research in the Medical Sciences (IL)
Publication Details
- Journal
- Pediatric Nephrology
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1007/s00467-025-06827-w
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Technion-Israel Institute of Technology