PubMed (OMIM) for id: 120626

Year	Number of Results
1971	1
1972	1
1973	1
1974	1
1977	1
1979	1
1983	1
1985	1
1987	1
1989	1
1990	1
1993	1
1994	1
1996	2
1998	2
1999	2
2001	1
2024	0

1

Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

Lindqvist A, Hughes IA, Andersson S. Lindqvist A, et al. J Clin Endocrinol Metab. 2001 Feb;86(2):921-3. doi: 10.1210/jcem.86.2.7172. J Clin Endocrinol Metab. 2001. PMID: 11158067

2

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.

Boehmer AL, Brinkmann AO, Sandkuijl LA, Halley DJ, Niermeijer MF, Andersson S, de Jong FH, Kayserili H, de Vroede MA, Otten BJ, Rouwé CW, Mendonça BB, Rodrigues C, Bode HH, de Ruiter PE, Delemarre-van de Waal HA, Drop SL. Boehmer AL, et al. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21. doi: 10.1210/jcem.84.12.6174. J Clin Endocrinol Metab. 1999. PMID: 10599740

3

17Beta-hydroxysteroid dehydrogenase type 1, 2, 3, and 4 expression and enzyme activity in human anterior pituitary adenomas.

Green VL, Speirs V, Landolt AM, Foy PM, Atkin SL. Green VL, et al. J Clin Endocrinol Metab. 1999 Apr;84(4):1340-5. doi: 10.1210/jcem.84.4.5619. J Clin Endocrinol Metab. 1999. PMID: 10199776

4

Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).

Moghrabi N, Hughes IA, Dunaif A, Andersson S. Moghrabi N, et al. J Clin Endocrinol Metab. 1998 Aug;83(8):2855-60. doi: 10.1210/jcem.83.8.5052. J Clin Endocrinol Metab. 1998. PMID: 9709959

5

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.

Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, Shackleton CH, Imperato-McGinley J. Can S, et al. J Clin Endocrinol Metab. 1998 Feb;83(2):560-9. doi: 10.1210/jcem.83.2.4535. J Clin Endocrinol Metab. 1998. PMID: 9467575

6

A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females.

Rösler A, Silverstein S, Abeliovich D. Rösler A, et al. J Clin Endocrinol Metab. 1996 May;81(5):1827-31. doi: 10.1210/jcem.81.5.8626842. J Clin Endocrinol Metab. 1996. PMID: 8626842

7

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.

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. Andersson S, et al. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. doi: 10.1210/jcem.81.1.8550739. J Clin Endocrinol Metab. 1996. PMID: 8550739 Free article.

8

Male hypogonadism with gynecomastia caused by late-onset deficiency of testicular 17-ketosteroid reductase.

Castro-Magana M, Angulo M, Uy J. Castro-Magana M, et al. N Engl J Med. 1993 May 6;328(18):1297-301. doi: 10.1056/NEJM199305063281802. N Engl J Med. 1993. PMID: 8469252 Free article.

9

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.

Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S. Geissler WM, et al. Nat Genet. 1994 May;7(1):34-9. doi: 10.1038/ng0594-34. Nat Genet. 1994. PMID: 8075637

10

Sibship with 17-ketosteroid reductase (17-KSR) deficiency and hypothyroidism. Lack of linkage of histocompatibility leucocyte antigen and 17-KSR loci.

Lanes R, Brown TR, de Bustos EG, Valverde B, Pieretti RB, Bianco N, Ortega G, Migeon CJ. Lanes R, et al. J Clin Endocrinol Metab. 1983 Jul;57(1):190-6. doi: 10.1210/jcem-57-1-190. J Clin Endocrinol Metab. 1983. PMID: 6574136

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