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Results 1 - 2 of 2 for Congenital bile acid synthesis defect 5
  1. ... 5-C27-steroid dehydrogenase deficiency 3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency CBAS1 Genetic Testing Registry: Congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 ...
  2. ... condition. CBAS2 Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency Genetic Testing Registry: Congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 ...