Ref: 2019F1714 © GOSH NHS Foundation Trust, December 2019 Page 1 of 3 Antley-Bixler syndrome: information for families Antley-Bixler syndrome is a type of complex craniosynostosis

case report 46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene DDS 46,XX e síndrome de Antley-Bixler causada por

Tipar acta nr 3, 2012 verificat CB 29 sept.qxdsyndrome (ABS) is an extremely rare syndrome characterized by congenital craniosynostosis and radiohumeral synostosis. Many

Cytochrome P450 oxidoreductase deficiencyCytochrome P450 oxidoreductase deficiency Description Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production.

Diminished FAD Binding in the Y459H and V492E Antley-Bixler Syndrome Mutants of Human Cytochrome P450 Reductase*Diminished FAD Binding in the Y459H and V492E Antley-Bixler

Malformation syndromes caused by disorders of cholesterol synthesis6 Journal of Lipid Research Volume 52, 2011 This article is available online at http://www.jlr.org ( Figs.

doi:10.1086/429417729 Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis Ningwu Huang,1 Amit