Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.920741
Abstract: Schinzel–Giedion syndrome (SGS) is a multiple malformation syndrome characterized by typical facial features, severe neurodevelopmental delay, and multiple congenital abnormalities. SGS is associated with de novo pathogenic variants in the SETBP1 gene. In specific, SETBP1… read more here.
Keywords: chinese neonate; giedion syndrome; schinzel giedion; setbp1 ... See more keywords
Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation
Sign Up to like & getrecommendations! Published in 2025 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2025.1534192
Abstract: Background Rare 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. Objectives A… read more here.
Keywords: urinary tract; megaureter; case; giedion syndrome ... See more keywords