TY  - GEN
AU  - Cirillo,G
AU  - Marini,R
AU  - Ito,S
AU  - Wakamatsu,K
AU  - Scianguetta,S
AU  - Bizzarri,C
AU  - Romano,A
AU  - Grandone,A
AU  - Perrone,L
AU  - Cappa,M
AU  - Miraglia Del Giudice,E
TI  - 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
SN  - 1365-2133
PY  - 2013///0606
KW  - Adrenocorticotropic Hormone
KW  - deficiency
KW  - Adult
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - genetics
KW  - Hair
KW  - chemistry
KW  - Hair Color
KW  - Homozygote
KW  - Humans
KW  - Hypoglycemia
KW  - drug therapy
KW  - Male
KW  - Melanins
KW  - analysis
KW  - Nonsense Mediated mRNA Decay
KW  - Obesity
KW  - Pedigree
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Pro-Opiomelanocortin
KW  - Young Adult
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1111/j.1365-2133.2012.11060.x
ER  -