Associated Papers
[Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome].
Ruan QF et al.
Zhonghua Shao Shang Za Zhi = Zhonghua Shaoshang Zazhi = Chinese Journal of Burns, 2020
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Doolan BJ et al.
Experimental Dermatology, 2020
A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.
Abdalla EM et al.
Molecular Syndromology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_7._Type_2_Cryptic_Splice_Site_Variantsv2.xlsx › Supplementary_Table_7
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
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
Hamada T et al.
Experimental Dermatology, 2002
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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