@article{358fa82308674994adc157dc276727d6,
title = "Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility",
author = "Lee, {John Y.W.} and Assem Farag and Amira Tawdy and Lu Liu and Magdalene Michael and Ellie Rashidghamat and Sophia Aristodemou and Hsu, {Chao Kai} and Simpson, {Michael A.} and Maddy Parsons and McGrath, {John A.}",
note = "Funding Information: The authors acknowledge financial support from the National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy{\textquoteright}s and St Thomas{\textquoteright} NHS Foundation Trust and King{\textquoteright}s College London. We also thank Dr Kathleen Green (Northwestern University) for helpful discussions. Funding Information: The authors acknowledge financial support from the National Institute for Health Research (NIHR) Biomedical Research Centre based at Guy's and St Thomas? NHS Foundation Trust and King's College London. We also thank Dr Kathleen Green (Northwestern University) for helpful discussions.",
year = "2018",
month = feb,
doi = "10.1016/j.jdermsci.2017.11.012",
language = "English",
volume = "89",
pages = "198--201",
journal = "Journal of Dermatological Science",
issn = "0923-1811",
publisher = "Elsevier Ireland Ltd",
number = "2",
}