Associated Papers
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Doolan BJ et al.
Experimental Dermatology, 2020
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.
Boyce AE et al.
The Australasian Journal of Dermatology, 2012
Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families.
Tanaka A et al.
The British Journal of Dermatology, 2009
Ectodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing.
Chandra Konda S et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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