title: Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.|GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Ruud G L
authors.initials: RG
authors.lastname: Nellen
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.|GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Ivo F
authors.initials: IF
authors.lastname: Nagtzaam
authors.affiliation: Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
authors.forename: A Jeannette M
authors.initials: AJ
authors.lastname: Hoogeboom
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Reno S
authors.initials: RS
authors.lastname: Bladergroen
authors.affiliation: Department of Dermatology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
authors.forename: Marcel F
authors.initials: MF
authors.lastname: Jonkman
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.|GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Steijlen
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.|GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.|Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.|Institute of Medical Biology, Immunos, Singapore.
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: van Steensel
authors.affiliation: Department of Dermatology, Maastricht University Medical Centre, Maastricht, The Netherlands.|GROW Research School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.|Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: Michel
authors.initials: M
authors.lastname: van Geel
mesh_terms: D002675:Child, Preschool; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics*; D053556:Keratin-1 / Q000235:genetics*; D008297:Male; D010641:Phenotype
chemical_list: C491616:KRT1 protein, human; D053556:Keratin-1
keywords: Epidermolytic ichthyosis; KRT1; keratin; palmoplantar keratoderma