Miller syndrome with novel dihydroorotate dehydrogenase gene mutations

Pediatr Int. 2011 Aug;53(4):587-91. doi: 10.1111/j.1442-200X.2010.03303.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Dihydroorotate Dehydrogenase
  • Female
  • Heterozygote
  • Humans
  • Limb Deformities, Congenital / genetics*
  • Mandibulofacial Dysostosis / genetics*
  • Micrognathism / genetics*
  • Mutation, Missense*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*

Substances

  • Dihydroorotate Dehydrogenase
  • Oxidoreductases Acting on CH-CH Group Donors

Supplementary concepts

  • Genee-Wiedemann syndrome