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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:Frontiers in Pediatrics
المؤلفون الرئيسيون: 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
التنسيق: مقال
اللغة:الإنجليزية
منشور في: Frontiers Media S.A. 2025-03-01
الموضوعات:
gene
syndrome
ureter
SETBP1
megaureter
Schinzel–Giedion syndrome
الوصول للمادة أونلاين:https://www.frontiersin.org/articles/10.3389/fped.2025.1534192/full

الانترنت

https://www.frontiersin.org/articles/10.3389/fped.2025.1534192/full

مواد مشابهة