Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Dörr HG, Schulze N, Bettendorf M, Binder G, Bonfig W, Denzer C, Dunstheimer D, Salzgeber K, Schmidt H, Schwab KO, Voss E, Wabitsch M, Wölfle J.
Dörr HG, et al.
Mol Cell Pediatr. 2020 Jul 9;7(1):8. doi: 10.1186/s40348-020-00100-w.
Mol Cell Pediatr. 2020.
PMID: 32647925
Free PMC article.
In total, 58.1% mild and 34.7% severe mutations were found. The most common mutation was p.Val281Leu (39.1%); 65.8% of the patients could be allocated to group C1. ...The 17OHP levels (basal and after ACTH) in the standard ACTH stimulation test were highest in group C1 and …
In total, 58.1% mild and 34.7% severe mutations were found. The most common mutation was p.Val281Leu (39.1%); 65.8% of the patients c …