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.
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
09 July 2020
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| In: |
Molecular and Cellular Pediatrics
Year: 2020, Volume: 7, Pages: 1-7 |
| ISSN: | 2194-7791 |
| DOI: | 10.1186/s40348-020-00100-w |
| Online Access: | 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 |
| Author Notes: | 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 |
| Summary: | 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. |
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| Item Description: | Gesehen am 21.09.2026 |
| Physical Description: | Online Resource |
| ISSN: | 2194-7791 |
| DOI: | 10.1186/s40348-020-00100-w |