Low-birth-weight infant with Antley-Bixler syndrome-like phenotype caused by POR mutation: a rare case report

Eur Rev Med Pharmacol Sci. 2020 Dec;24(23):11998-12000. doi: 10.26355/eurrev_202012_23987.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Antley-Bixler Syndrome Phenotype / genetics*
  • Cytochrome P-450 Enzyme System / genetics*
  • Cytochrome P-450 Enzyme System / metabolism
  • Female
  • Humans
  • Infant, Low Birth Weight*
  • Infant, Newborn
  • Mutation
  • Oxidoreductases / genetics*
  • Oxidoreductases / metabolism

Substances

  • Cytochrome P-450 Enzyme System
  • Oxidoreductases