title: Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
authors.affiliation: Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Pöhler
authors.affiliation: Department of Dermatology, University Hospital Crosshouse, Kilmarnock, UK.
authors.forename: Mozheh
authors.initials: M
authors.lastname: Zamiri
authors.affiliation: Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Department of Dermatology, Ninewells Hospital and Medical School, Dundee, UK.
authors.forename: Catriona P
authors.initials: CP
authors.lastname: Harkins
authors.affiliation: Basic Science Department, Universidad de Monterrey, Nuevo León, México.
authors.forename: Julio C
authors.initials: JC
authors.lastname: Salas-Alanis
authors.affiliation: Department of Dermatology, Nottingham University Hospitals NHS Trust, Nottingham, UK.
authors.forename: William
authors.initials: W
authors.lastname: Perkins
authors.affiliation: Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.
authors.forename: Frances J D
authors.initials: FJD
authors.lastname: Smith
authors.affiliation: Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK.
authors.forename: W H
authors.initials: WH
authors.lastname: Irwin McLean
authors.affiliation: Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry and Nursing, University of Dundee, Dundee, UK; Department of Dermatology, Ninewells Hospital and Medical School, Dundee, UK. Electronic address: s.j.brown@dundee.ac.uk.
authors.forename: Sara J
authors.initials: SJ
authors.lastname: Brown
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000378:metabolism*; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D015398:Signal Transduction
chemical_list: C579464:AAGAB protein, human; D033942:Adaptor Proteins, Vesicular Transport; D002352:Carrier Proteins; D036341:Intercellular Signaling Peptides and Proteins