A Novel Biallelic STN1 Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome
Year: 2025
Type: article
Abstract: A novel biallelic missense mutation (c.470A>T) in the STN1 gene is responsible for Coats Plus Syndrome.
Source: Clinical Genetics
DOI: 10.1111/cge.70124
Authors: Filiz Ozen, Diyar Sayit, Zeynep Yegin
Institution: Sinop University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4417290177