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- [2] Pitfalls in diagnosis of Congenital Adrenal Hyperplasia due to 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency - A Problem of Assay Interference HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 323 - 324
- [5] Two Novel Homozygous Mutations in the Type II 3β-Hydroxysteroid Dehydrogenase(3β-HSD) Gene Causing Non-Salt Wasting and Salt Wasting 3β-HSD Deficiency Congenital Adrenal Hyperplasia (CAH) and the Utility of Hormonal Profiles for Diagnosising Bonafide 3β-HSD Deficiency CAH• 505 Pediatric Research, 1998, 43 (Suppl 4) : 89 - 89
- [7] A Nonvirilized form of Classic 3β-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria HORMONE RESEARCH IN PAEDIATRICS, 2016, 86 : 281 - 281
- [10] Congenital Adrenal Hyperplasia caused by homozygous pathogenic variant in the HSD3B2 gene HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 1): : 195 - 195