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Article

Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.

Molecular genetics & genomic medicine - 1 Jun 2024

Lei Zhang, He-Lin Zhu, Hai-Yan Wang, Wei Jia, Ru Wang, Zhi-Li Cui, Qian-Feng Wang

Abstract excerpt

PURPOSE: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma. METHODS: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing...

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PMID: 38867642
DOI: 10.1002/mgg3.2481
PMCID: PMC11169764

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