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

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.

Human mutation - 1 Jan 2014

Opletalova Kristina, Bourillon Agnès, Yang Wei, Pouvelle Caroline, Armier Jacques, Despras Emmanuelle, Ludovic Martin, Mateus Christine, Robert Caroline, Kannouche Patricia, Soufir Nadem, Sarasin Alain

Abstract excerpt

Xeroderma pigmentosum variant (XP-V) is a rare genetic disease, characterized by some sunlight sensitivity and predisposition to cutaneous malignancies. We described clinical and genetic features of the largest collection ever published of 23 XPV patients (ages between 21 and 86) from 20 unrelated families. Primary fibroblasts from patients showed normal nucleotide excision repair but UV-hypersensitivity in the...

Read the complete abstract on PubMed

Topics

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

Share to Caffeine
Share to Carcinoma, Basal Cell

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Carcinoma, Squamous Cell

Share to DNA-Directed DNA Polymerase

Share to Protein Stability

Share to Skin Neoplasms

Share to Ultraviolet Rays

Share to Xeroderma Pigmentosum

Source

Identifiers

PMID: 24130121
DOI: 10.1002/humu.22462

Genes

POLH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.PMID 24130121Read ↗

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular EtiologySemantic proximity Read ↗

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.Semantic proximity Read ↗

Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA RepairSemantic proximity Read ↗

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.Semantic proximity Read ↗

Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.Semantic proximity Read ↗

Molecular genetics of Xeroderma pigmentosum variant.Semantic proximity Read ↗

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.Semantic proximity Read ↗

Spotlight on 'xeroderma pigmentosum'.Semantic proximity Read ↗

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.Semantic proximity Read ↗

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.Semantic proximity Read ↗

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Semantic proximity Read ↗

Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl.Semantic proximity Read ↗

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