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

British Journal of Dermatology

Volumn 167, Issue 6, 2012, Pages 1393-1395

  Cirillo, G ^a   Marini, R ^b   Ito, S ^c   Wakamatsu, K ^c   Scianguetta, S ^a   Bizzarri, C ^b   Romano, A ^a   Grandone, A ^a   Perrone, L ^a   Cappa, M ^b   Miraglia Del Giudice, E ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c FUJITA HEALTH UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EUMELANIN; PHEOMELANIN; PROOPIOMELANOCORTIN;

CASE REPORT; CHILD; CODON; GENE EXPRESSION; GENE MUTATION; HAIR COLOR; HUMAN; HYDROCORTISONE BLOOD LEVEL; LETTER; MALE; OBESITY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADRENOCORTICOTROPIC HORMONE; ADULT; CHILD, PRESCHOOL; CODON, NONSENSE; HAIR; HAIR COLOR; HOMOZYGOTE; HUMANS; HYPOGLYCEMIA; MALE; MELANINS; NONSENSE MEDIATED MRNA DECAY; OBESITY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRO-OPIOMELANOCORTIN; YOUNG ADULT;

EID: 84870240982     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.11060.x     Document Type: Letter

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