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

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.

Klinische Padiatrie - 1 May 2022

Nawal Warda, Ullah Asmat, Ullah Ubaid, Farrakh Kanza, Ahmad Farooq, Khan Hammal, Ahmad Gul Saeed, Khan Bushra, Ansar Muhammad, Kalsoom Umm-E-, Ahmad Wasim

Abstract excerpt

BACKGROUND: Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to cause the XP. METHODS AND RESULTS: Three large consanguineous families of Pakistani origin displaying typical clinical hallmarks of XP were evaluated at clinical and...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Xeroderma Pigmentosum

Source

Identifiers

PMID: 34544175
DOI: 10.1055/a-1552-3788

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.PMID 34544175Read ↗

XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.Semantic proximity Read ↗

Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.Semantic proximity Read ↗

Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.Semantic proximity Read ↗

Genotype-phenotype associations in a robust cohort of 69 patients with xeroderma pigmentosum across Türkiye: a multicentre study.Semantic proximity Read ↗

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins.Semantic proximity Read ↗

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.Semantic proximity Read ↗

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.Semantic proximity Read ↗

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.Semantic proximity Read ↗

Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.Semantic proximity Read ↗

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosisSemantic proximity Read ↗

Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.Semantic proximity Read ↗

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.Semantic proximity Read ↗

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