title: 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.
authors.forename: G
authors.initials: G
authors.lastname: Cirillo
authors.forename: R
authors.initials: R
authors.lastname: Marini
authors.forename: S
authors.initials: S
authors.lastname: Ito
authors.forename: K
authors.initials: K
authors.lastname: Wakamatsu
authors.forename: S
authors.initials: S
authors.lastname: Scianguetta
authors.forename: C
authors.initials: C
authors.lastname: Bizzarri
authors.forename: A
authors.initials: A
authors.lastname: Romano
authors.forename: A
authors.initials: A
authors.lastname: Grandone
authors.forename: L
authors.initials: L
authors.lastname: Perrone
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: E
authors.initials: E
authors.lastname: Miraglia Del Giudice
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000172:deficiency*; D000328:Adult; D002675:Child, Preschool; D018389:Codon, Nonsense / Q000235:genetics*; D006197:Hair / Q000737:chemistry; D006200:Hair Color / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007003:Hypoglycemia / Q000188:drug therapy; D008297:Male; D008543:Melanins / Q000032:analysis; D059365:Nonsense Mediated mRNA Decay / Q000235:genetics*; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011333:Pro-Opiomelanocortin / Q000235:genetics*; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D008543:Melanins; C016042:phaeomelanin; C041877:eumelanin; D011333:Pro-Opiomelanocortin; D000324:Adrenocorticotropic Hormone