Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

• Main Authors: Sudhisha Dubey (Author), Renu Saxena (Author), Ratna Dua Puri (Author), Ishwar Chander Verma (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme. This gene is susceptible to deletions and duplications due to th...