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 patient, 46 XX newborn, was diagnosed with classical salt wasting CAH in the neonatal period after initially presenting...
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