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Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation

BackgroundRare early-onset lower urinary tract (REOLUT) disorders affect the ureter, urinary bladder, or urethra and manifest before birth or in childhood. Monogenic causes have been reported in a subset of such individuals.ObjectivesA possible genetic cause was considered in a child with a megauret...

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Principais autores: Glenda M. Beaman, Benjamin W. Jarvis, Anju Goyal, David J. B. Keene, Max Cervellione, Filipa M. Lopes, Kay A. Metcalfe, Adrian S. Woolf, William G. Newman
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2025-03-01
סדרה:Frontiers in Pediatrics
נושאים:
gene
syndrome
ureter
SETBP1
megaureter
Schinzel–Giedion syndrome
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fped.2025.1534192/full
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