Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany.
Enregistré dans:
| Auteurs principaux: | , , , , , , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Langue: | anglais |
| Publié: |
09 July 2020
|
| In: |
Molecular and Cellular Pediatrics
Year: 2020, Volume: 7, Pages: 1-7 |
| ISSN: | 2194-7791 |
| DOI: | 10.1186/s40348-020-00100-w |
| Accès en ligne: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s40348-020-00100-w Verlag, kostenfrei, Volltext: https://link.springer.com/article/10.1186/s40348-020-00100-w |
| Notes sur l'auteur: | Helmuth-Günther Dörr, Nadja Schulze, Markus Bettendorf, Gerhard Binder, Walter Bonfig, Christian Denzer, Desiree Dunstheimer, Kirsten Salzgeber, Heinrich Schmidt, Karl Otfried Schwab, Egbert Voss, Martin Wabitsch and Joachim Wölfle |
| Résumé: | Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by mutations in the active 21-hydroxylase gene (CYP21A2). The clinical symptoms can vary greatly. To date, no systematic studies have been undertaken in Germany. |
|---|---|
| Description: | Gesehen am 21.09.2026 |
| Description matérielle: | Online Resource |
| ISSN: | 2194-7791 |
| DOI: | 10.1186/s40348-020-00100-w |