KEGG   VARIANT: 3293v1
Entry
3293v1                      Variant                                
Name
HSD17B3 deficiency
Type
Loss of function
Gene
HSD17B3  hydroxysteroid 17-beta dehydrogenase 3 [KO:K10207]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605573
Network
nt06019  Steroid hormone biosynthesis
Disease
H00608  46,XY disorder of sex development due to testosterone secretion defect
Reference
PMID:8075637
  Authors
Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S
  Title
Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.
  Journal
Nat Genet 7:34-9 (1994)
DOI:10.1038/ng0594-34
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