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.

Cirillo, G

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. [electronic resource] - The British journal of dermatology Dec 2012 - 1393-5 p. digital

Publication Type: Case Reports; Letter

1365-2133

10.1111/j.1365-2133.2012.11060.x doi


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