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