KEGG   VARIANT: 6716v1
Entry
6716v1                      Variant                                
Name
SRD5A2 deficiency
Type
Loss of function
Gene
SRD5A2  steroid 5 alpha-reductase 2 [KO:K12344]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607306
Network
nt06019  Steroid hormone biosynthesis
Disease
H00608  46,XY disorder of sex development due to testosterone secretion defect
Reference
PMID:8626825
  Authors
Cai LQ, Zhu YS, Katz MD, Herrera C, Baez J, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J
  Title
5 alpha-reductase-2 gene mutations in the Dominican Republic.
  Journal
J Clin Endocrinol Metab 81:1730-5 (1996)
DOI:10.1210/jcem.81.5.8626825
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