General References
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- Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994 May;7(1):34-9. [PubMed:8075637 ]
- Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. [PubMed:8550739 ]
- Bilbao JR, Loridan L, Audi L, Gonzalo E, Castano L: A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. Eur J Endocrinol. 1998 Sep;139(3):330-3. [PubMed:9758445 ]
- Moghrabi N, Hughes IA, Dunaif A, Andersson S: Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metab. 1998 Aug;83(8):2855-60. [PubMed:9709959 ]
- Lindqvist A, Hughes IA, Andersson S: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 2001 Feb;86(2):921-3. [PubMed:11158067 ]
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