Review
Open access
Jan 2026
Phenotypes of Hereditary Diseases Associated With Rauch–Steindl Syndrome
Purpose Prenatal phenotypic manifestations of genetic disorders associated with NSD2 variants remain poorly characterized. This study presents our institutional experience with the prenatal diagnosis of NSD2‐associated genetic disorders, specifically Rauch–Steindl syndrome (RAUST), aiming to improve understanding of bo...
Yi Kong, You-Sheng Wang, Xing-Wang Wang et al.
· Human Mutation · 0 citations