A Novel Biallelic <scp> <i>STN1</i> </scp> Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome

A novel biallelic missense mutation (c.470A>T) in the STN1 gene is responsible for Coats Plus Syndrome.

Authors

Zeynep Yeğin (ORCID: https://orcid.org/0000-0003-4637-0253)
Filiz Özen (ORCID: https://orcid.org/0000-0001-9187-5387)
Diyar Sayıt (ORCID: https://orcid.org/0009-0004-0903-3199)

Institutions

Istanbul Eye Hospital (TR)
Sinop University (TR)

Publication Details

Journal: Clinical Genetics
Published: 2025-12-12
DOI: https://doi.org/10.1111/cge.70124
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

A Novel Biallelic STN1 Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome

Zeynep Yeğin, Filiz Özen, Diyar Sayıt

Dec 12, 2025

Clinical Genetics

Genomics and Rare Diseases

article

A Novel Biallelic STN1 Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome

Zeynep Yeğin, Filiz Özen, Diyar Sayıt

December 12, 2025article en

Abstract

A novel biallelic missense mutation (c.470A>T) in the STN1 gene is responsible for Coats Plus Syndrome.

Clinical GeneticsVol. 109(4)

Istanbul Eye Hospital (TR), Sinop University (TR)

Openalex Percentile: Top 58%

Genomics and Rare Diseases

DOI Source OpenAlex

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A Novel Biallelic <scp> <i>STN1</i> </scp> Mutation Is Associated With Adult‐Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome — Zeynep Yeğin, Filiz Özen, et al. · Clinical Genetics (2025) | TGRS Research Map | TGRS