Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
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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