Article
Biology of the Adrenal Gland Cortex Obviates Effective Use of Adeno-Associated Virus Vectors to Treat Hereditary Adrenal Disorders.
Human gene therapy - 1 Apr 2018
Markmann Sandra, De Bishnu P, Reid Jasmine, Jose Clarisse L, Rosenberg Jonathan B, Leopold Philip L, Kaminsky Stephen M, Sondhi Dolan, Pagovich Odelya, Crystal Ronald G
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder occurring in 1:10,000 to 1:20,000 live births. In >95% of the cases, CAH results from mutations in the CYP21A2 gene, encoding the adrenal steroid enzyme 21-hydroxylase (21OH). Cardinal phenotypic features of CAH include genital ambiguity and sexual precocity, and in severe cases, neonatal salt loss and death. Current standard of care consists...
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