Heather Fawcett
Brighton, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 16 publications
XP-J, a ninth xeroderma pigmentosum complementation group, results from mutations in GTF2H4, encoding TFIIH-p52 subunit.
Journal: The Journal of clinical investigation
Published: September 09, 2025
Unusual Disease-Progression in Two Siblings With Xeroderma Pigmentosum Group G.
Journal: Clinical genetics
Published: August 27, 2025
A Splicing Variant in XPA Results in Delayed Onset of Clinical Features of Xeroderma Pigmentosum.
Journal: The Journal of investigative dermatology
Published: April 11, 2025
APE1-dependent base excision repair of DNA photodimers in human cells.
Journal: Molecular cell
Published: February 03, 2023
Localized genital bullous pemphigoid.
Journal: Clinical and experimental dermatology
Published: November 20, 2017
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Journal: Journal of medical genetics
Published: June 20, 2017
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 18, 2016
Porokeratosis of Mibelli: case report of an uncommon penile lesion.
Journal: Clinical and experimental dermatology
Published: October 14, 2015
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
Journal: The Journal of investigative dermatology
Published: August 03, 2015
Male genital lichen sclerosus in recipients of bone marrow transplants.
Journal: Clinical and experimental dermatology
Published: July 22, 2015
Last Updated: 09/26/2026