title: Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
authors.forename: Vesarat
authors.initials: V
authors.lastname: Wessagowit
authors.forename: Soo-Chan
authors.initials: SC
authors.lastname: Kim
authors.forename: Se
authors.initials: S
authors.lastname: Woong Oh
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D024143:Collagen Type VII; D022821:RNA Splice Sites