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Article

Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.

Journal of medical genetics - 1 Sept 2023

Kuo Che-Yuan, Chung Ming-Yi, Chen Shih-Jen

Abstract excerpt

BACKGROUND: Hereditary maculopathy is a group of clinically and genetically heterogeneous disorders. With distinctive clinical features, subtypes of macular atrophy may correlate with their genetic defects. METHODS: Seven patients from six families with adolescent/adult-onset maculopathy were examined in this clinical case series. A detailed medical history and eye examination were performed. Genomic DNA...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36690427
DOI: 10.1136/jmg-2022-108918
PMCID: PMC10447408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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