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Article

A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.

Molecular medicine reports - 1 Jan 2020

Gao Xuhui, Liu Tiecheng, Cheng Xuan, Dai Aiai, Liu Wei, Li Runpu, Zhang Maonian

Abstract excerpt

Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and perform genotype analysis of a family with OA1, and to determine the disease‑causing mutation. A total of 18 family...

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Identifiers

PMID: 31746431
DOI: 10.3892/mmr.2019.10813
PMCID: PMC6896309

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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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