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

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 scr...

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Detalles Bibliográficos
Autores principales: Li, Jia-Tong, Chen, Ze-Xu, Chen, Xiang-Jun, Jiang, Yong-Xiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9615255/
https://www.ncbi.nlm.nih.gov/pubmed/36303223
http://dx.doi.org/10.1186/s13023-022-02544-x

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