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

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dc.contributor.authorOzen, Filiz
dc.contributor.authorSayit, Diyar
dc.contributor.authorYegin, Zeynep
dc.date.accessioned2026-04-25T14:20:14Z
dc.date.available2026-04-25T14:20:14Z
dc.date.issued2026
dc.departmentSinop Üniversitesi
dc.description.abstract[No abstract available]
dc.identifier.doi10.1111/cge.70124
dc.identifier.endpage815
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue4
dc.identifier.orcid0009-0004-0903-3199
dc.identifier.pmid41387117
dc.identifier.scopus2-s2.0-105024685395
dc.identifier.scopusqualityQ2
dc.identifier.startpage813
dc.identifier.urihttps://doi.org/10.1111/cge.70124
dc.identifier.urihttps://hdl.handle.net/11486/8444
dc.identifier.volume109
dc.identifier.wosWOS:001638221500001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryDiğer
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20260420
dc.subjectcoats plus
dc.subjectCRMCC
dc.subjectgastrointestinal bleeding
dc.subjectSTN1
dc.subjecttelomere-associated genes
dc.titleA Novel Biallelic STN1 Mutation Is Associated With Adult-Onset Multisystemic Involvement: Broadening the Mutational Spectrum in Coats Plus Syndrome
dc.typeLetter

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