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

Sibel Ersoy-Evans*, Gül Erkin, Hiva Fassihi, Ien Chan, Amy S. Paller, Selçuk Sürücü, John A. McGrath

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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