Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Autor: Ersoy-Evans, Sibel, Erkin, Gül, Fassihi, Hiva, Chan, Ien, Paller, Amy S., Sürücü, Selçuk, McGrath, John A.
Zdroj: In Journal of the American Academy of Dermatology 2006 55(1):157-161
Databáze: ScienceDirect