In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. [electronic resource]
- Clinical endocrinology Jan 2015
- 37-44 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1365-2265
10.1111/cen.12526 doi
Adolescent Adrenal Hyperplasia, Congenital--genetics Adult Child Female Genotype Humans In Vitro Techniques Male Mutation Phenotype Steroid 21-Hydroxylase--genetics