CYP21A2

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

Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase

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

Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase

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

Hyperplasie congénitale des surrénales

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

Hyperplasie congénitale des surrénales non classique et pubarche prématurée