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Article

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.

Journal of dermatological science - 1 Jun 2013

Sung Jae Yong, Oh Se-Woong, Kim Song Ee, Kim Soo-Chan

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Share to Adolescent
Share to Diagnosis, Differential
Share to DNA Mutational Analysis
Share to Hyperkeratosis, Epidermolytic

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23623204
DOI: 10.1016/j.jdermsci.2013.03.001

Genes

KRT1

Provenance

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Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.PMID 23623204Read ↗

Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation.Semantic proximity Read ↗

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.Semantic proximity Read ↗

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.Semantic proximity Read ↗

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.Semantic proximity Read ↗

Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.Semantic proximity Read ↗

A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10.Semantic proximity Read ↗

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.Semantic proximity Read ↗

A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.Semantic proximity Read ↗

Mosaic and Generalized Forms of Keratinopathic IchthyosesSemantic proximity Read ↗

Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.Semantic proximity Read ↗

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.Semantic proximity Read ↗

Epidermolytic Ichthyosis Sine Epidermolysis.Semantic proximity Read ↗

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