P450 oxidoreductase deficiency and Antley–Bixler syndrome

  • Wiebke Arlt
  • Published 2007 in Reviews in Endocrine and Metabolic Disorders

Abstract

Antley–Bixler syndrome is a congenital malformation syndrome that primarily manifests with craniofacial abnormalities but may include skeletal malformations. Some cases have been shown to be caused by fibroblast growth factor receptor 2 mutations and, recently, it was revealed that others are caused by mutations in the electron donor enzyme P450… (More)
DOI: 10.1007/s11154-007-9056-y

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