Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2133.1999.02667.x/fullpdf
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2. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome;McGrath;Nature Genet,1997
3. Desmosomes and hemidesmosomes;Garrod;Curr Opin Cell Biol,1993
4. Desmosomes and hemidesmosomes: structure and function of molecular components;Green;FASEB J,1996
5. Breaking the connection: displacement of the desmosomal plaque protein from cell���cell interfaces disrupts anchorage of intermediate filament bundles and alters intercellular junction assembly;Bornslaeger;J Cell Biol,1996
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1. Ectodermal dysplasia-skin fragility syndrome – identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing;Indian Journal of Dermatology, Venereology and Leprology;2024-03-02
2. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex;International Journal of Molecular Sciences;2021-11-18
3. Ectodermal dysplasia‐skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis;Experimental Dermatology;2020-05-25
4. Ectodermal Dysplasias;Harper's Textbook of Pediatric Dermatology;2019-11-20
5. Epidermolysis Bullosa and Kindler Syndrome;Harper's Textbook of Pediatric Dermatology;2019-11-20
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