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 the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.

Nature genetics - 1 Oct 1993

Rogaev E I, Rogaeva E A, Ginter E K, Korovaitseva G I, Farrer L A, Shlensky A B, Pritkov A N, Mordovtsev V N, St George-Hyslop P H

Abstract excerpt

Familial keratosis palmaris et plantaris (KPPF) is characterized by extreme keratinization and desquamation of the skin of the palmar and plantar surfaces of the hands and feet. We have mapped the causative genetic defect to an 8 cM interval on 17q12-24 in or close to the acidic keratin (type I)...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 17
DNA
DNA Mutational Analysis
Female
Genotype
Homozygote
Humans
Keratins
Keratoderma, Palmoplantar
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Pedigree

Phenotype

Receptors, Retinoic Acid

Retinoic Acid Receptor alpha

Source

Identifiers

PMID: 7504553
DOI: 10.1038/ng1093-158

Genes

RARA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7504553-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.PMID 7504553Read ↗

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

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

Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.Semantic proximity Read ↗

Keratin 16 and keratin 17 mutations cause pachyonychia congenita.Semantic proximity Read ↗

Novel keratin 17 mutations in pachyonychia congenita type 2.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 ↗

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

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.Semantic proximity Read ↗

Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas.Semantic proximity Read ↗

Keratin K6c mutations cause focal palmoplantar keratoderma.Semantic proximity Read ↗

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas.Semantic proximity Read ↗

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two familiesSemantic proximity Read ↗

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