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Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis

Autosomally recessive Antley-Bixler Syndrome with ambiguous Genitalia and disturbed steroidoGenesis, and associated with Mutations in the POR Gene, encoding P450 (Cytochrome) oxidoreductase (NADPH-Ferrihemoprotein Reductase).