Barbaro, Michela

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