title: Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.
authors.affiliation: Department of Dermatology, University of Freiburg, Hauptstrasse 7, D-79104 Freiburg, Germany. cristina.has@uniklinik-freiburg.de.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.forename: Agnes
authors.initials: A
authors.lastname: Schwieger-Briel
authors.forename: Nina
authors.initials: N
authors.lastname: Schlipf
authors.forename: Ingrid
authors.initials: I
authors.lastname: Hausser
authors.forename: Nadja
authors.initials: N
authors.lastname: Chmel
authors.forename: Bernd
authors.initials: B
authors.lastname: Rösler
authors.forename: Kristin
authors.initials: K
authors.lastname: Technau
authors.forename: Thilo
authors.initials: T
authors.lastname: Jakob
authors.forename: Andreas
authors.initials: A
authors.lastname: Zimmer
authors.forename: Judith
authors.initials: J
authors.lastname: Fischer
mesh_terms: D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D006162:Guanylate Cyclase; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D009154:Mutation / Q000235:genetics*; D010916:Pityriasis Rubra Pilaris / Q000235:genetics*
chemical_list: D053468:CARD Signaling Adaptor Proteins; D008565:Membrane Proteins; C426243:CARD14 protein, human; D006162:Guanylate Cyclase