Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

BACKGROUND: 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. AIMS: Description of the phenotype, eva...

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Publicat a:Mol Cell Pediatr
Autors principals: Dörr, Helmuth-Günther, Schulze, Nadja, Bettendorf, Markus, Binder, Gerhard, Bonfig, Walter, Denzer, Christian, Dunstheimer, Desiree, Salzgeber, Kirsten, Schmidt, Heinrich, Schwab, Karl Otfried, Voss, Egbert, Wabitsch, Martin, Wölfle, Joachim
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2020
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7347723/
https://ncbi.nlm.nih.gov/pubmed/32647925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40348-020-00100-w
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