Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in-frame deletions and a less severe phenotype.

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Publication Details

Journal
Clinical Genetics
Published
2026-01-02
DOI
https://doi.org/10.1111/cge.70129
Primary Topic
DNA Repair Mechanisms
Type
article
Field-Weighted Citation Impact
0.00

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article

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Hiva Fassihi, A R Lehmann, Elena Botta, Donata Orioli et al.
Clinical Genetics
DNA Repair Mechanisms
article

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Hiva Fassihi, A R Lehmann, Elena Botta, Donata Orioli, Heather Fawcett
article en

Abstract

Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in-frame deletions and a less severe phenotype.

Clinical Genetics
University of Sussex (GB), Royal Free London NHS Foundation Trust (GB), Istituto di Genetica Molecolare (IT)
Associazione Italiana per la Ricerca sul Cancro
Openalex Percentile: Top 98%
DNA Repair Mechanisms
DOIOpen Access PDFOpenAlex
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