In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.

doi:10.3390/ijms21165857

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Article

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.

International journal of molecular sciences - 14 Aug 2020

Cohen Michal, Pignatti Emanuele, Dines Monica, Mory Adi, Ekhilevitch Nina, Kolodny Rachel, Flück Christa E, Tiosano Dov

Abstract excerpt

Classical congenital adrenal hyperplasia (CAH) caused by pathogenic variants in the steroid 21-hydroxylase gene (CYP21A2) is a severe life-threatening condition. We present a detailed investigation of the molecular and functional characteristics of a novel pathogenic variant in this gene. The pat...

Topics

Child, Preschool
Computer Simulation
Evolution, Molecular
Female
Humans
Infant
Infant, Newborn
Mutation
Steroid 21-Hydroxylase

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