Condition: 17-Hydroxysteroid Dehydrogenase Deficiency
rs119481077 in
HSD17B3 gene and
17-Hydroxysteroid Dehydrogenase Deficiency
PMID 9758445 1998 A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
PMID 19498320 2009 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.
PMID 24025597 2013 Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?
PMID 21214500 2011 Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis.
PMID 22212252 2011 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.
PMID 26545797 2016 Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
PMID 8550739 1996 Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
PMID 8075637 1994 Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
PMID 11158067 2001 Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
PMID 9709959 1998 Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).
PMID 23295294 2012 Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.
PMID 10599740 1999 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations.
PMID 17509588 2008 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.
rs767259718 in
HSD17B3;HSD17B3-AS1 gene and
17-Hydroxysteroid Dehydrogenase Deficiency
PMID 8550739 1996 Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
PMID 11158067 2001 Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency.
PMID 9758445 1998 A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.
PMID 8075637 1994 Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
PMID 26545797 2016 Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
PMID 9709959 1998 Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).