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

Clinical Genetics 2026 Open access

Read full text
Authors: Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann
DOI: 10.1111/cge.70129
Cited by: 0
References: 2

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.

Fields of Study & Subjects

DNA Repair Mechanisms Genetic factors in colorectal cancer RNA regulation and disease

Publication details

Journal / source
Clinical Genetics
Volume
109
Issue
5
Pages
984–985
Publication date
2 January 2026
Language
EN