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Congenital bile acid synthesis defect 1
- ... C27-steroid oxidoreductase deficiency CBAS1 Genetic Testing Registry: Congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 National ...
- ... synthesis defect type 2 is unknown. Together, all congenital defects of bile acid synthesis are thought to have a prevalence of 1 to 9 per million people. Mutations in the ...