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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
HSD17B3
gene.
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 citation
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. 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab. 1999 Dec;84(12):4713-21.
PubMed citation
Entrez
Gene
Faienza MF, Giordani L, Delvecchio M, Cavallo L. Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. J Endocrinol Invest. 2008 Jan;31(1):85-91. Review.
PubMed citation
Lee YS, Kirk JM, Stanhope RG, Johnston DI, Harland S, Auchus RJ, Andersson S, Hughes IA. Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf). 2007 Jul;67(1):20-8. Epub 2007 Apr 27.
PubMed citation
Margiotti K, Kim E, Pearce CL, Spera E, Novelli G, Reichardt JK. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Prostate. 2002 Sep 15;53(1):65-8.
PubMed citation
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 citation
OMIM:
17-BETA HYDROXYSTEROID DEHYDROGENASE
III
Reviewed: November 2008
Published: May 13, 2013
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