Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.

The Journal of investigative dermatology - 1 Nov 1992

Bonifas J M, Bare J W, Chen M A, Lee M K, Slater C A, Goldsmith L A, Epstein E H

Abstract excerpt

Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is a severe, generalized, lifelong disease of the skin. As in epidermolysis bullosa simplex, intraepidermal blisters and clumping of keratin intermediate filaments are characteristic. We report here linkage of the inheritance of this disease to the region of chromosome 12q containing the genes encoding type II keratins. This suggests...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Mapping
Share to Chromosomes, Human, Pair 12

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

Share to Epidermolysis Bullosa Simplex

Share to Genetic Linkage

Share to Keratins

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 1385543
DOI: 10.1111/1523-1747.ep12658061

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.PMID 1385543Read ↗

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q.Semantic proximity Read ↗

Epidermolytic hyperkeratosis: applied molecular genetics.Semantic proximity Read ↗

Mapping of epidermolysis bullosa simplex mutation to chromosome 12.Semantic proximity Read ↗

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.Semantic proximity Read ↗

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.Semantic proximity Read ↗

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12?q21Semantic proximity Read ↗

Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis.Semantic proximity Read ↗

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.Semantic proximity Read ↗

A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.Semantic proximity Read ↗

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.Semantic proximity Read ↗

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.Semantic proximity Read ↗

Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.