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Article

Ocular manifestations in DYRK1A mutation: a five-case series from South Korea.

Ophthalmic genetics - 1 Aug 2026

Yang Seung Ahn, Boo Jun Ho, Choi Heeyoung, Kim Su-Jin, Cheon Chong Kun, Lee Seung Min, Lee Ji-Eun

Abstract excerpt

BACKGROUND: This study investigated the ocular manifestations in patients with a dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) mutation. METHODS: A retrospective chart review was conducted on five patients with a DYRK1A mutation who were referred to the Department of Ophthalmology for evaluation of ocular abnormalities. Data were collected through patient interviews, clinical...

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Identifiers

PMID: 41804029
DOI: 10.1080/13816810.2026.2635639

Genes

DYRK1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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