Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1
- 31 July 2006
- journal article
- case report
- Published by Elsevier in Journal of the American Academy of Dermatology
- Vol. 55 (1) , 157-161
- https://doi.org/10.1016/j.jaad.2005.10.002
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Compound Heterozygosity for New Splice Site Mutations in the Plakophilin 1 Gene ( PKP1) in a Chinese Case of Ectodermal Dysplasia–Skin Fragility SyndromeActa Dermato-Venereologica, 2005
- Cryptic Splicing at a Non-Consensus Splice-Donor in a Patient with a Novel Mutation in the Plakophilin-1 GeneJournal of Investigative 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 FamiliesJournal of Investigative Dermatology, 2004
- Plakophilin 1: an important stabilizer of desmosomesClinical and Experimental Dermatology, 2004
- Identification of SLC39A4, a gene involved in acrodermatitis enteropathicaNature Genetics, 2002
- Genotype–phenotype correlation in skin fragility‐ectodermal dysplasia syndrome resulting from mutations in plakophilin 1Experimental Dermatology, 2002
- Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility SyndromeJournal of Investigative Dermatology, 2000
- Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1British Journal of Dermatology, 1999
- Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromeNature Genetics, 1997
- The Distribution of the Desmosomal Protein, Plakophilin 1, in Human Skin and Skin TumorsJournal of Investigative Dermatology, 1997