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Article

Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.

Orphanet journal of rare diseases - 27 Oct 2022

Li Jia-Tong, Chen Ze-Xu, Chen Xiang-Jun, Jiang Yong-Xiang

Abstract excerpt

BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype-phenotype correlations have been established yet. METHODS: Potentially pathogenic SUOX mutations were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing and analyzed with multiple...

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Identifiers

PMID: 36303223
DOI: 10.1186/s13023-022-02544-x
PMCID: PMC9615255

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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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