| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06019 Steroid hormone biosynthesis |
|---|
| Disease |
| H01111 | Cortisone reductase deficiency |
|
|---|
| Reference |
|
|---|
| Authors |
Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M |
|---|
| Title |
Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP |
|---|
| Title |
Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. |
|---|
| Journal |
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|---|
| LinkDB |
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|---|
