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

Autor: Hsu CK; 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., Liu L; Viapath, St. Thomas' Hospital, London, UK., Can PK; Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey., Kocatürk E; Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey., McMillan JR; Viapath, St. Thomas' Hospital, London, UK., Güngör Ş; Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey., Hürdoğan Ö; Istanbul University Of Medicine, Histology and Embriology, Istanbul, Turkey., Sargan A; Okmeydanı Training and Research Hospital, Pathology, Istanbul, Turkey., Degirmentepe EN; Okmeydanı Training and Research Hospital, Dermatology, Istanbul, Turkey., Lee JY; St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK., Simpson MA; Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK., McGrath JA; St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address: john.mcgrath@kcl.ac.uk.
Jazyk: angličtina
Zdroj: Journal of dermatological science [J Dermatol Sci] 2016 Nov; Vol. 84 (2), pp. 210-212. Date of Electronic Publication: 2016 Aug 11.
DOI: 10.1016/j.jdermsci.2016.08.011
Databáze: MEDLINE