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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Auteurs principaux: Dörr, Helmuth-Günther (Auteur) , Schulze, Nadja (Auteur) , Bettendorf, Markus (Auteur) , Binder, Gerhard (Auteur) , Bonfig, Walter (Auteur) , Denzer, Christian (Auteur) , Dunstheimer, Désirée Patricia Alexandra (Auteur) , Salzgeber, Kirsten (Auteur) , Schmidt, Heinrich (Auteur) , Schwab, Karl Otfried (Auteur) , Voss, Egbert (Auteur) , Wabitsch, Martin (Auteur) , Wölfle, Joachim (Auteur)
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
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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
Description
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