Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

J Dermatol Sci. 2016 Nov;84(2):210-212. doi: 10.1016/j.jdermsci.2016.08.011. Epub 2016 Aug 11.

¹ 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.
² Viapath, St. Thomas' Hospital, London, UK.
³ Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey.
⁴ Istanbul University Of Medicine, Histology and Embriology, Istanbul, Turkey.
⁵ Okmeydanı Training and Research Hospital, Pathology, Istanbul, Turkey.
⁶ St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
⁷ Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK.
⁸ St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address: john.mcgrath@kcl.ac.uk.

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