title: Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.
authors.affiliation: Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany.
authors.forename: Johanna
authors.initials: J
authors.lastname: Kratzsch
authors.affiliation: Department of Human Genetics, University of Leipzig, Leipzig, Germany.
authors.forename: Diana
authors.initials: D
authors.lastname: Mitter
authors.affiliation: Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany.
authors.forename: Mirjana
authors.initials: M
authors.lastname: Ziemer
authors.affiliation: Department of Human Genetics, University of Freiburg, Freiburg, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Department of Dermatology, Venerology, and Allergology, University of Leipzig, Leipzig, Germany.
authors.forename: Harald
authors.initials: H
authors.lastname: Voth
mesh_terms: D001707:Biopsy, Needle; D004268:DNA-Binding Proteins; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010023:Osteopoikilosis / Q000235:genetics* / Q000473:pathology*; D017354:Point Mutation; D011379:Prognosis; D035583:Rare Diseases; D012720:Severity of Illness Index; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology*
chemical_list: D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins