查看文章

Alexandros Onoufriadis, NS Ahmed, H Besser, A Guy, Lu Liu, A Marantzidis, Evangelia Kesidou, Maria Papanikolaou, Michael Andrew Simpson, Jemima Mellerio, John William Lee, John Alexander McGrath

2019/10/16

Journal of Investigative Dermatology

Nature Publishing Group

Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis J Invest Dermatol. 2020 Jun;140(6):1285-1288. doi: 10.1016/j.jid.2019.10.015. Epub 2019 Nov 29. Authors Alexandros Onoufriadis 1 , Noha Ahmed 2 , Hagar Bessar 2 , Alyson Guy 3 , Lu Liu 3 , Alexandros Marantzidis 1 , Evangelia Kesidou 1 , Maria Papanikolaou 1 , Michael A Simpson 4 , Jemima E Mellerio 1 , John YW Lee 1 , John A McGrath 5 Affiliations 1 St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, United Kingdom. 2 Department of Dermatology, Zagazig University, Zagazig, Egypt. 3 Viapath, Guy's Hospital, London, United Kingdom. 4 Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, United Kingdom…