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

Chao Kai Hsu, Lu Liu, Pelin K. Can, Emek Kocatürk, James R. McMillan, Şule Güngör, Özge Hürdoğan, Aytul Sargan, Ece N. Degirmentepe, John Y.W. Lee, Michael A. Simpson, John A. McGrath

Research output: Contribution to journalLetterpeer-review

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)210-212
Number of pages3
JournalJournal of Dermatological Science
Issue number2
Publication statusPublished - 2016 Nov 1

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

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