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
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
Ersoy-Evans S et al.
Journal of the American Academy of Dermatology, 2006
Plakophilin 1: an important stabilizer of desmosomes.
South AP
Clinical and Experimental Dermatology, 2004
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.
Sprecher E et al.
The Journal of Investigative Dermatology, 2004
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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