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Article

Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1: case report of a rare EB genotype-phenotype.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2020

O'Connor C, Heffron C, McGrath J, O'Shea S, Bourke J

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PMID: 32250485
DOI: 10.1111/jdv.16418

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Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1: case report of a rare EB genotype-phenotype.PMID 32250485Read ↗

A novel mutation in the COL7A1 gene results in a unique phenotype of epidermolysis bullosa pruriginosa.Semantic proximity Read ↗

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Epidermolysis bullosa pruriginosa: further clarification of the phenotype.Semantic proximity Read ↗

Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa within the same family: two phenotypes associated with a COL7A1 mutation.Semantic proximity Read ↗

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A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa.Semantic proximity Read ↗

Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation.Semantic proximity Read ↗

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