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Article

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

The Australasian journal of dermatology - 1 Nov 2021

Dietrich Carmen, Salzmann Martin, Streit Enrico, Toberer Ferdinand, Emmert Steffen, Dikow Nicola, Haenssle Holger

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PMID: 34570363
DOI: 10.1111/ajd.13724

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Related research

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Research trail→

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Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl.PMID 34570363Read ↗

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

A new POLH mutation in a consanguineous Chinese family with xeroderma pigmentosum variant type.Semantic proximity Read ↗

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

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

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

POLR3A-related disorders: expanding the clinical phenotype.Semantic proximity Read ↗

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

Current state of knowledge of human DNA polymerase eta protein structure and disease-causing mutations.Semantic proximity Read ↗

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Dysfunction in Patient-Derived FibroblastsSemantic proximity Read ↗

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

Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.Semantic proximity Read ↗

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

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