Antley-Bixler syndrome

Overview

Is Antley-Bixler syndrome considered a disorder of steroidogenesis?

When Antley-Bixler syndrome is caused by changes to the POR gene it is considered a disorder of steroidogenesis. Changes to the POR gene decreases activity of the cytochrome P450 oxidoreductase leading to the disruption of steroid hormone production.

Cytochrome P450 oxidoreductase deficiency - Genetics Home Reference - NIH. (n.d.). Retrieved December 25, 2018, from https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency#statistics

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