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 locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.

Journal of medical genetics - 1 Dec 2003

Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E, Horev L, Ruiz I M, Davalos N O, Alayan O, Liu J, Gilliam T C, Salas-Alanis J C, Christiano A M

Abstract excerpt

BACKGROUND: The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only a few molecular...

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 15

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

Share to Keratoderma, Palmoplantar

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 14684683
DOI: 10.1136/jmg.40.12.872
PMCID: PMC1735333

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

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.PMID 14684683Read ↗

Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31.Semantic proximity Read ↗

Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma.Semantic proximity Read ↗

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.Semantic proximity Read ↗

Hereditary palmoplantar keratoderma: A practical approach to the diagnosisSemantic proximity Read ↗

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease.Semantic proximity Read ↗

Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.Semantic proximity Read ↗

The palmoplantar keratodermas: much more than palms and soles.Semantic proximity Read ↗

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.Semantic proximity Read ↗

Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.Semantic proximity Read ↗

Identification of a locus for porokeratosis palmaris et plantaris disseminata to a 6.9-cM region at chromosome 12q24.1-24.2.Semantic proximity Read ↗

[Molecular genetic study of a family affected with punctate palmoplantar keratoderma].Semantic proximity Read ↗

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype.Semantic proximity Read ↗

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