| Autor: |
J C, Herkert, E E, Blaauwwiekel, A, Hoek, H E, Veenstra-Knol, I P, Kema, W, Arlt, M N, Kerstens |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
The Netherlands journal of medicine. 69(6) |
| ISSN: |
1872-9061 |
| Popis: |
Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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