Mutation analysis of SUOX in isolated sulfite oxidase deficiency with ectopia lentis as the presenting feature: insights into genotype-phenotype correlation.
Li JT, Chen ZX, Chen XJ, Jiang YX.
Orphanet J Rare Dis. 2022 Oct 27;17(1):392. doi: 10.1186/s13023-022-02544-x.