title: Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.
authors.affiliation: St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK; Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Institue of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Chao-Kai
authors.initials: CK
authors.lastname: Hsu
authors.affiliation: Viapath, St. Thomas' Hospital, London, UK.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey.
authors.forename: Pelin K
authors.initials: PK
authors.lastname: Can
authors.affiliation: Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey.
authors.forename: Emek
authors.initials: E
authors.lastname: Kocatürk
authors.affiliation: Viapath, St. Thomas' Hospital, London, UK.
authors.forename: James R
authors.initials: JR
authors.lastname: McMillan
authors.affiliation: Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey.
authors.forename: Şule
authors.initials: Ş
authors.lastname: Güngör
authors.affiliation: Istanbul University Of Medicine, Histology and Embriology, Istanbul, Turkey.
authors.forename: Özge
authors.initials: Ö
authors.lastname: Hürdoğan
authors.affiliation: Okmeydanı Training and Research Hospital, Pathology, Istanbul, Turkey.
authors.forename: Aytul
authors.initials: A
authors.lastname: Sargan
authors.affiliation: Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey.
authors.forename: Ece N
authors.initials: EN
authors.lastname: Degirmentepe
authors.affiliation: St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
authors.forename: John Y W
authors.initials: JY
authors.lastname: Lee
authors.affiliation: Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK.
authors.forename: Michael A
authors.initials: MA
authors.lastname: Simpson
authors.affiliation: St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address: john.mcgrath@kcl.ac.uk.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000328:Adult; D017398:Alternative Splicing; D001665:Binding Sites; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007438:Introns; D009154:Mutation; D051191:Plakophilins / Q000235:genetics*; D022821:RNA Splice Sites; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012871:Skin Diseases / Q000235:genetics*; D014421:Turkey
chemical_list: C495335:PKP1 protein, human; D051191:Plakophilins; D022821:RNA Splice Sites