title: Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Ritelli
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Chiarelli
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Quinzani
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Dordoni
authors.affiliation: Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Venturini
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
authors.forename: Lidia
authors.initials: L
authors.lastname: Pezzani
authors.affiliation: Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy.
authors.forename: Piergiacomo
authors.initials: P
authors.lastname: Calzavara-Pinton
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address: marina.colombi@unibs.it.
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
mesh_terms: D003483:Cutis Laxa / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D006180:Proton-Translocating ATPases / Q000235:genetics*; D012867:Skin / Q000201:enzymology / Q000473:pathology
chemical_list: C525845:ATP6V0A2 protein, human; D006180:Proton-Translocating ATPases