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OMIM Entry - # 272300 - SULFITE OXIDASE DEFICIENCY ...

A number sign (#) is used with this entry because isolated sulfite oxidase deficiency (ISOD) is caused by homozygous or compound heterozygous mutation in the sulfite oxidase gene (SUOX; 606887) on chromosome 12q13. In an infant with fatal neurologic disease and ectopia lentis, Mudd et al. (1967 ...

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