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Article

GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.

Molecular vision - 1 Jan 2023

Xu Jingling, Zheng Yihan, Cheng Lulu, Sun Huihui, Yu Xinping, Gu Feng, Song E

Abstract excerpt

Purpose: Infantile nystagmus syndrome (INS), or congenital nystagmus (CN), refers to a group of ocular motor disorders characterized by rapid to-and-fro oscillations of the eyes. GPR143 is the causative gene of ocular albinism type 1 (OA1), which is a special type of INS that manifests as reduced vision, nystagmus, and iris and fundus hypopigmentation. Here, we explored the genetic spectrum of INS and the...

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Share to Albinism, Ocular
Share to Eye Proteins
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nystagmus, Congenital

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Source

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Identifiers

PMID: 38222445
PMCID: PMC10784212

Provenance

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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