Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis

Br J Dermatol. 2012 Dec;167(6):1393-5. doi: 10.1111/j.1365-2133.2012.11060.x. Epub 2012 Sep 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenocorticotropic Hormone / deficiency*
  • Adult
  • Child, Preschool
  • Codon, Nonsense / genetics*
  • Hair / chemistry
  • Hair Color / genetics*
  • Homozygote
  • Humans
  • Hypoglycemia / drug therapy
  • Male
  • Melanins / analysis
  • Nonsense Mediated mRNA Decay / genetics*
  • Obesity / genetics*
  • Pedigree
  • Phenotype
  • Polymerase Chain Reaction
  • Pro-Opiomelanocortin / genetics*
  • Young Adult

Substances

  • Codon, Nonsense
  • Melanins
  • phaeomelanin
  • eumelanin
  • Pro-Opiomelanocortin
  • Adrenocorticotropic Hormone