Clinical genetics
A Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome.
Filiz Ozen, Diyar Sayit, Zeynep Yegin
Published: 202510.1111/cge.70124
Abstract
A novel biallelic missense mutation (c.470A>T) in the STN1 gene is responsible for Coats Plus Syndrome.