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Article

A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.

The Journal of dermatology - 1 Jul 2024

Koga Hiroshi, Teye Kwesi, Hamada Takahiro, Katsumi Tatsuya, Takei Shingo, Hayashi Ryota, Nakama Takekuni

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Share to Collagen Type VII
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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: 38321622
DOI: 10.1111/1346-8138.17137

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation.PMID 38321622Read ↗

A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant.Semantic proximity Read ↗

Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.Semantic proximity Read ↗

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene.Semantic proximity Read ↗

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

Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type?Semantic proximity Read ↗

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

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

Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.Semantic proximity Read ↗

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

Skipped exon in COL7A1 determines the clinical phenotypes of dystrophic epidermolysis bullosa.Semantic proximity Read ↗

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.Semantic proximity Read ↗

A case of adult-onset localized recessive dystrophic epidermolysis bullosa, harboring the novel COL7A1 mutation p.G2754E and the previously reported mutation p.R1763.Semantic proximity Read ↗

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