title: Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.|Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Dan
authors.initials: D
authors.lastname: Vodo
authors.affiliation: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Ofer
authors.initials: O
authors.lastname: Sarig
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.|Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Alon
authors.initials: A
authors.lastname: Peled
authors.affiliation: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.affiliation: Department of Dermatology, Chaim Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Shoshi
authors.initials: S
authors.lastname: Greenberger
authors.affiliation: Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.|Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Eli
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D002675:Child, Preschool; D003483:Cutis Laxa / Q000235:genetics*; D004252:DNA Mutational Analysis; D004549:Elastin / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007438:Introns; D008297:Male
chemical_list: D004549:Elastin
keywords: autosomal dominant inheritance; cryptic splice site; cutis laxa; elastin