KEGG   VARIANT: 3284v1
Entry
3284v1                      Variant                                
Name
HSD3B2 deficiency
Type
Loss of function
Gene
HSD3B2  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [KO:K00070]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613890
Network
nt06019  Steroid hormone biosynthesis
Disease
H00216  Congenital adrenal hyperplasia
Reference
PMID:1363812
  Authors
Rheaume E, Simard J, Morel Y, Mebarki F, Zachmann M, Forest MG, New MI, Labrie F
  Title
Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.
  Journal
Nat Genet 1:239-45 (1992)
DOI:10.1038/ng0792-239
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