CYP21A2

Survival without treatment of patients with classic and non-classic 21-hydroxylase deficiency.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.

Congenital adrenal hyperplasia

Genotype-refined 17OHP cut-offs diagnosing nonclassical CAH due to 21OH deficiency in children with premature pubarche.

Nonclassic congenital adrenal hyperplasia and premature pubarche