Expanding the phenotype of GTF2E2-associated trichothiodystrophy

J Eur Acad Dermatol Venereol. 2024 Mar;38(3):e222-e226. doi: 10.1111/jdv.19545. Epub 2023 Oct 16.

Authors

Brian Sperelakis-Beedham^{1

2}, Lyse Ruaud¹, Yoann Vial¹, Myriam Rachid^{1

3}, Faustine Ageorges¹, Louise Goujon¹, Alain Verloes¹, Anne-Claude Tabet^{1

2

3}, Emmanuelle Bourrat⁴, Jonathan Lévy^{1

2}

Affiliations

¹ Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.
² Plateforme SeqOIA, AP-HP, Paris, France.
³ Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France.
⁴ Department of Dermatology, Hôpital Saint Louis, AP-HP, Paris, France.

PMID: 37793898
DOI: 10.1111/jdv.19545

No abstract available

Publication types

Letter

MeSH terms

DNA Repair
Humans
Phenotype
Trichothiodystrophy Syndromes* / diagnosis
Trichothiodystrophy Syndromes* / genetics
Xeroderma Pigmentosum Group D Protein / genetics

Substances

Xeroderma Pigmentosum Group D Protein