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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.
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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  Data: Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.
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  Data: <searchLink fieldCode="AU" term="%22Beaman+GM%22">Beaman GM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jarvis+BW%22">Jarvis BW</searchLink>; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Goyal+A%22">Goyal A</searchLink>; Department of Paediatric Urology, Royal Manchester Children's Hospital, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Keene+DJB%22">Keene DJB</searchLink>; Department of Paediatric Urology, Royal Manchester Children's Hospital, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cervellione+M%22">Cervellione M</searchLink>; Department of Paediatric Urology, Royal Manchester Children's Hospital, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Lopes+FM%22">Lopes FM</searchLink>; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Metcalfe+KA%22">Metcalfe KA</searchLink>; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust (MFT), Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Woolf+AS%22">Woolf AS</searchLink>; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Newman+WG%22">Newman WG</searchLink>; 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.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fped.2025.1534192
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              Text: 2025 Mar 07
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