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Article

A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.

Indian journal of dermatology, venereology and leprology - 1 Jan 2000

Choudhary Shyama, Parakh Manish, Suthar Kiran, Parakh Poonam, Khichar Satyendra

Abstract excerpt

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28749383
DOI: 10.4103/ijdvl.IJDVL_485_16

Genes

ERCC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.PMID 28749383Read ↗

Xeroderma pigmentosum group D: Report of a novel combination of ERCC2 variations and its phenotype.Semantic proximity Read ↗

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Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.Semantic proximity Read ↗

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Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.Semantic proximity Read ↗

HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease.Semantic proximity Read ↗

A case of xeroderma pigmentosum group C with rare compound heterozygous mutations.Semantic proximity Read ↗

Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome.Semantic proximity Read ↗

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.Semantic proximity Read ↗

Identification of Damaging nsSNVs in HumanERCC2 Gene.Semantic proximity Read ↗

Xeroderma pigmentosum with multiple skin carcinoma and a homogenous XPC mutation: A case report from China and literature review.Semantic proximity Read ↗

Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case seriesSemantic proximity Read ↗

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