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Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) - 1 Jun 2024

Zhou Mandi, Zheng Zhixin, Teng Jinglei, Yang Chao, Zeng Ming

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Share to Collagen Type VII
Share to Epidermolysis Bullosa Dystrophica
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38840153
DOI: 10.1111/srt.13779
PMCID: PMC11154770

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Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1.PMID 38840153Read ↗

A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.Semantic proximity Read ↗

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Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.Semantic proximity Read ↗

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

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Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens type.Semantic proximity Read ↗

Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.Semantic proximity Read ↗

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