Case report
Open access
Sep 2026
Endocrine manifestations of Luscan–Lumish syndrome associated with a novel SETD2 frameshift variant
Abstract Luscan–Lumish syndrome is a rare autosomal-dominant disorder caused by pathogenic SET domain-containing protein 2 (SETD2) variants, classically associated with postnatal overgrowth, obesity, developmental delay, seizures, and Chiari I malformation; endocrine manifestations remain poorly characterized. We repor...
Julian Huang, Diana Ashouri, A. L. Dominguez
· JCEM Case Reports · 0 citations