Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. [electronic resource]
Producer: 20160126Description: 623-8 p. digitalISSN:- 2191-0251
- 17-Hydroxysteroid Dehydrogenases -- chemistry
- Amino Acid Sequence
- Child
- Chromatography, High Pressure Liquid
- Disorder of Sex Development, 46,XY -- diagnosis
- Female
- Gynecomastia -- diagnosis
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Polymorphism, Single Nucleotide
- Sequence Homology, Amino Acid
- Steroid Metabolism, Inborn Errors -- diagnosis
- Tandem Mass Spectrometry
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Publication Type: Case Reports; Journal Article
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