Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Dermatology,General Medicine,Pathology and Forensic Medicine
Reference19 articles.
1. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
2. Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
3. Genomic Amplification of the Human Plakophilin 1 Gene and Detection of a New Mutation in Ectodermal Dysplasia/Skin Fragility Syndrome
4. Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
5. 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
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1. Ectodermal Dysplasia Presenting as Heat Exhaustion in an Adolescent Boy;Cureus;2021-02-20
2. Ectodermal dysplasia‐skin fragility syndrome: two new cases with a novel missense mutation;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2020-10-30
3. Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*;British Journal of Dermatology;2020-08-02
4. Ectodermal dysplasia‐skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis;Experimental Dermatology;2020-05-25
5. A case of mosaicism in ectodermal dysplasia-skin fragility syndrome;British Journal of Dermatology;2017-09-14
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