Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
Fiche publication
Date publication
mai 2018
Journal
Journal of the European Academy of Dermatology and Venereology : JEADV
Auteurs
Membres identifiés du Cancéropôle Est :
Pr LEBRE Anne-Sophie
Tous les auteurs :
Espi P, Parajuli S, Benfodda M, Lebre AS, Paudel U, Grange A, Grybek V, Grange T, Soufir N, Grange F
Lien Pubmed
Résumé
Little is known about xeroderma pigmentosum (XP) in Himalayan countries.
Mots clés
Adolescent, Adult, Carcinoma, Basal Cell, etiology, Carcinoma, Squamous Cell, etiology, Child, Child, Preschool, DNA Mutational Analysis, DNA-Binding Proteins, genetics, Eye Neoplasms, etiology, Female, Heterozygote, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Infant, Keratosis, Actinic, etiology, Male, Mutation, Neoplasms, Multiple Primary, etiology, Nepal, Phenotype, Pilot Projects, Prospective Studies, Receptor, Melanocortin, Type 1, genetics, Skin Neoplasms, etiology, Xeroderma Pigmentosum, complications, Xeroderma Pigmentosum Group A Protein, genetics, Xeroderma Pigmentosum Group D Protein, genetics, Young Adult
Référence
J Eur Acad Dermatol Venereol. 2018 May;32(5):832-839