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

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Mar 2017

Khalil S, Daou L, Hayashi R, Abbas O, Nemer G, Saadeh D, Shimomura Y, Kurban M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to DNA
Share to DNA Mutational Analysis
Share to Hyperkeratosis, Epidermolytic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Keratoderma, Palmoplantar

Share to Membrane Proteins

Share to Pedigree

Source

Identifiers

PMID: 27520397
DOI: 10.1111/jdv.13882

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis.PMID 27520397Read ↗

Loricrin keratoderma: description of a novel mutation, systematic review and meta-analysis between genotypic and phenotypic features.Semantic proximity Read ↗

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.Semantic proximity Read ↗

The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree.Semantic proximity Read ↗

A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma.Semantic proximity Read ↗

Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin.Semantic proximity Read ↗

A novel insertional mutation in loricrin in Vohwinkel's Keratoderma.Semantic proximity Read ↗

Collodion baby and loricrin keratoderma: a case report and mutation analysis.Semantic proximity Read ↗

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome.Semantic proximity Read ↗

Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.Semantic proximity Read ↗

Mutational Analysis of the <em>SLC4A11</em> in A (Filipino) Family with Congenital Hereditary Endothelial DystrophySemantic proximity Read ↗

Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations.Semantic proximity Read ↗

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Semantic proximity Read ↗

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