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Article

Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene.

Clinical and experimental dermatology - 25 Oct 2023

Olbrich Henning, Hotz Alrun, Fischer Judith, Shimanovich Iakov

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37462267
DOI: 10.1093/ced/llad238

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene.PMID 37462267Read ↗

Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.Semantic proximity Read ↗

Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.Semantic proximity Read ↗

Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5.Semantic proximity Read ↗

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.Semantic proximity Read ↗

Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations.Semantic proximity Read ↗

Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation.Semantic proximity Read ↗

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.Semantic proximity Read ↗

Novel homozygous mutations of DNAH5 in Kartagener syndrome.Semantic proximity Read ↗

One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex.Semantic proximity Read ↗

In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.Semantic proximity Read ↗

A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.Semantic proximity Read ↗

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.Semantic proximity Read ↗

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