Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation
This case indicates the value of genetic testing when a REOLUT disorder is accompanied by syndromic signs outside the urinary tract. SETBP1 may drive the functional differentiation of the human fetal ureter.
Authors
- Anju Goyal (ORCID: https://orcid.org/0000-0002-5876-9109)
- Glenda M. Beaman (ORCID: https://orcid.org/0000-0002-6098-9995)
- Filipa M. Lopes (ORCID: https://orcid.org/0000-0001-9913-4137)
- Adrian S. Woolf (ORCID: https://orcid.org/0000-0001-5541-1358)
- Benjamin W. Jarvis (ORCID: https://orcid.org/0000-0002-3857-1779)
- William G. Newman (ORCID: https://orcid.org/0000-0002-6382-4678)
- David Keene (ORCID: https://orcid.org/0000-0002-5570-000X)
- Kay Metcalfe
- Max Cervellione
Institutions
- University of Manchester (GB)
- Henry Royce Institute (GB)
- St Mary's Hospital (GB)
- Manchester University NHS Foundation Trust (GB)
- Genomics (United Kingdom) (GB)
- Royal Manchester Children's Hospital (GB)
- St. Mary's Hospital (GB)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-03-07
- DOI
- https://doi.org/10.3389/fped.2025.1534192
- Citations
- 2
- Primary Topic
- Pediatric Urology and Nephrology Studies
- Type
- article
- Field-Weighted Citation Impact
- 6.99
Funders
- Medical Research Council