title: The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study.
authors.forename: Giulio
authors.initials: G
authors.lastname: Fortuna
authors.forename: Marianna
authors.initials: M
authors.lastname: Di Lorenzo
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Cepeda-Valdes
authors.forename: Cecilia
authors.initials: C
authors.lastname: Garcia-Garcia
authors.forename: Julio Cesar
authors.initials: JC
authors.lastname: Salas-Alanis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D024143:Collagen Type VII / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D016108:Epidermolysis Bullosa Dystrophica; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D008800:Mexico; D008875:Middle Aged; D050505:Mutant Proteins / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D050505:Mutant Proteins
keywords: EB; Epidermolysis bullosa; Genotype; Mutation; Phenotype; Pruriginosa