Article

Whole exome sequencing identified novel mutation in SUOX gene causes extremely rare autosomal recessive isolated sulfite oxidase deficiency

2020-10-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Isolated sulfite oxidase deficiency (ISOD) is the rarest types of life-threatening neurometabolic disorders characterized by neonatal intractable seizures and severe developmental delay with an autosomal recessive mode of inheritance. ISOD is extremely rare and only 29 mutations have been identified and reported worldwide. Germline mutation in <italic>SUOX</italic...

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Literature Corpus work: e698aebb-01f5-5b25-bbf0-a275953b7451
DOI: 10.21203/rs.3.rs-90427/v1

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