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Article

Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 May 2018

Espi P, Parajuli S, Benfodda M, Lebre A-S, Paudel U, Grange A, Grybek V, Grange T, Soufir N, Grange F

Abstract excerpt

BACKGROUND: Little is known about xeroderma pigmentosum (XP) in Himalayan countries. OBJECTIVE: To describe clinical characteristics of XP in Nepal and investigate its genetic bases. METHODS: This study was carried out on all consecutive patients referred for XP to a Nepalese tertiary referral centre in 2014-2015. Clinical data were collected using a standardized questionnaire. DNA was extracted from salivary...

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Source

Identifiers

PMID: 29178624
DOI: 10.1111/jdv.14717

Genes

XPC
ERCC2
XPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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