1. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. Issue 2 (November 2016) Authors: Hsu, Chao-Kai; Liu, Lu; Can, Pelin K.; Kocatürk, Emek; McMillan, James R.; Güngör, Şule; Hürdoğan, Özge; Sargan, Aytul; Degirmentepe, Ece N.; Lee, John Y.W.; Simpson, Michael A.; McGrath, John A. Journal: Journal of dermatological science Issue: Volume 84:Issue 2(2016:Nov.) Page Start: 210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗