title: Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
authors.affiliation: Institute of Human Genetics, University Medical Center Freiburg, Breisacherstraße 33, Freiburg, 79106, Germany.
authors.forename: N A
authors.initials: NA
authors.lastname: Schlipf
authors.affiliation: Department of Dermatology, University Hospital of Münster, Münster, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Traupe
authors.affiliation: Department of Dermatology, Hospital San Jose, Huesca, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Gilaberte
authors.affiliation: Department of Dermatology, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany.
authors.forename: W K
authors.initials: WK
authors.lastname: Peitsch
authors.affiliation: Institute of Pathology, University Clinic Heidelberg, Heidelberg, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.affiliation: Department of Dermatology, University Hospital of Münster, Münster, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Oji
authors.affiliation: Department of Dermatology, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Schmieder
authors.affiliation: Department of Dermatology, University Medical Center Mannheim, University of Heidelberg, Mannheim, Germany.
authors.forename: S W
authors.initials: SW
authors.lastname: Schneider
authors.affiliation: Institute of Human Genetics, University Medical Center Freiburg, Breisacherstraße 33, Freiburg, 79106, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Demmer
authors.affiliation: Institute of Human Genetics, University Medical Center Freiburg, Breisacherstraße 33, Freiburg, 79106, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Rösler
authors.affiliation: Institute of Human Genetics, University Medical Center Freiburg, Breisacherstraße 33, Freiburg, 79106, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Fischer
mesh_terms: D000293:Adolescent; D000328:Adult; D002114:Calcinosis / Q000235:genetics; D005260:Female; D005542:Forearm; D006579:Heterozygote; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*; D013002:Somatomedins / Q000235:genetics*
chemical_list: D013002:Somatomedins; C016756:somatomedin B; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases