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 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
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.
Wessagowit V et al.
Acta Dermato-venereologica, 2005
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.
Zheng R et al.
Acta Dermato-venereologica, 2005
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