POR R457H is a global founder mutation causing Antley–Bixler syndrome with autosomal recessive trait

Masanori Adachi, Yumi Asakura, Mari Matsuo, Toshiyuki Yamamoto, Keiichi Hanaki, Wiebke Arlt

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)
Original languageEnglish
Pages (from-to)633-635
Number of pages3
JournalAmerican Journal of Medical Genetics Part A
Issue number6
Early online date1 Jan 2006
Publication statusPublished - 15 Mar 2006


  • Abnormalities, Multiple
  • Alleles
  • Craniosynostoses
  • DNA Mutational Analysis
  • Exons
  • Gene Frequency
  • Genes, Recessive
  • Genotype
  • Humans
  • Mutation, Missense
  • NADPH-Ferrihemoprotein Reductase
  • Polymorphism, Single Nucleotide
  • Syndrome
  • Synostosis

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