title: Clinical phenotypes and ABCC6 gene mutations in Brazilian families with pseudoxanthoma elasticum.
authors.affiliation: Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Caroline Silvério
authors.initials: CS
authors.lastname: Faria
authors.forename: Qiaoli
authors.initials: Q
authors.lastname: Li
authors.forename: Haitao
authors.initials: H
authors.lastname: Guo
authors.forename: Jouni
authors.initials: J
authors.lastname: Uitto
authors.forename: Sylvia Satomi
authors.initials: SS
authors.lastname: Takeno
authors.forename: Marilia
authors.initials: M
authors.lastname: de Arruda Cardoso Smith
authors.forename: Dertia Villalba
authors.initials: DV
authors.lastname: Freire-Maia
mesh_terms: D000328:Adult; D000368:Aged; D001706:Biopsy; D001938:Brazil; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011561:Pseudoxanthoma Elasticum / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D012307:Risk Factors; D012867:Skin / Q000473:pathology
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human