Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.


Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We have experience of molecular analysis of in the CYP21 gene in 85 unrelated CAH families, in Taiwan for ten years. All ten exons of were analyzed by differential polymerase chain reactions (PCR) followed by single… (More)