Disease: Ectodermal dysplasia/ skin fragility syndrome
- A case of mosaicism in ectodermal dysplasia-skin fragility syndrome
- A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome
- Clinical spectrum of woolly hair: indications for cerebral involvement
- Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs
- Ectodermal dysplasia-skin fragility syndrome
- Ectodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing
- Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene
- Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1
- Ectodermal dysplasia-skin fragility syndrome with a new mutation
- Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene
- Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report
- Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis
- Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation
- Erratum: Ectodermal dysplasia skin fragility syndrome with a new mutation
- Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)
- Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome
- Isoform-Specific Roles of Mutant p63 in Human Diseases
- Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome
- Plakophilin 1 in carcinogenesis
- Plakophilin-1, a Novel Wnt Signaling Regulator, Is Critical for Tooth Development and Ameloblast Differentiation
- Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study
- Trichoscopy in Hair Shaft Disorders