Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

John Y.W. Lee, Assem Farag, Amira Tawdy, Lu Liu, Magdalene Michael, Ellie Rashidghamat, Sophia Aristodemou, Chao Kai Hsu, Michael A. Simpson, Maddy Parsons, John A. McGrath*

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

7 Citations (Scopus)
Original languageEnglish
Pages (from-to)198-201
JournalJournal of Dermatological Science
Volume89
Issue number2
Early online date2 Dec 2017
DOIs
Publication statusPublished - Feb 2018

Cite this