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Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG - 1 Apr 2023

Olbrich Henning, Fischer Judith, Shimanovich Iakov

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Share to Adaptor Proteins, Signal Transducing
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Share to Epidermolysis Bullosa Simplex

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37099007
DOI: 10.1111/ddg.15097_g

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Related research

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Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5.PMID 37099007Read ↗

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

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 ↗

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

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

Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi.Semantic proximity Read ↗

9qh+ variant band in two families.Semantic proximity Read ↗

A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.Semantic proximity Read ↗

Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype.Semantic proximity Read ↗

Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis.Semantic proximity Read ↗

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

The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology.Semantic proximity Read ↗

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