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PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Retina (Philadelphia, Pa.) - 1 Oct 2019

Zou Xuan, Fu Qing, Fang Sha, Li Hui, Ge Zhongqi, Yang Lizhu, Xu Mingchu, Sun Zixi, Li Huajin, Li Yumei, Dong Fangtian, Chen Rui, Sui Ruifang

Abstract excerpt

PURPOSE: To characterize the phenotypic variability and report the genetic defects in a cohort of Chinese patients with biallelic variants of the retinol dehydrogenase 12 (RDH12) gene. METHODS: The study included 38 patients from 38 unrelated families with biallelic pathogenic RDH12 variants. Systematic next-generation sequencing data analysis, Sanger sequencing validation, and segregation analysis were used to...

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Identifiers

PMID: 30134391
DOI: 10.1097/IAE.0000000000002242

Genes

RDH12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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