Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.
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| Title: | Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation. |
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| Authors: | Beaman GM; Division of Evolution, Infection and Genomics, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust (MFT), Manchester, United Kingdom., Jarvis BW; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom., Goyal A; Department of Paediatric Urology, Royal Manchester Children's Hospital, Manchester, United Kingdom., Keene DJB; Department of Paediatric Urology, Royal Manchester Children's Hospital, Manchester, United Kingdom., Cervellione M; Department of Paediatric Urology, Royal Manchester Children's Hospital, Manchester, United Kingdom., Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom., Metcalfe KA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust (MFT), Manchester, United Kingdom., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom., Newman WG; Division of Evolution, Infection and Genomics, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust (MFT), Manchester, United Kingdom. |
| Source: | Frontiers in pediatrics [Front Pediatr] 2025 Mar 07; Vol. 13, pp. 1534192. Date of Electronic Publication: 2025 Mar 07 (Print Publication: 2025). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2296-2360 |
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| DOI: | 10.3389/fped.2025.1534192 |
