Expanding the phenotype of GTF2E2-associated trichothiodystrophy.

Autor: Sperelakis-Beedham B; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France., Ruaud L; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France., Vial Y; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France., Rachid M; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France., Ageorges F; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France., Goujon L; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France., Verloes A; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France., Tabet AC; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France., Bourrat E; Department of Dermatology, Hôpital Saint Louis, AP-HP, Paris, France., Lévy J; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Plateforme SeqOIA, AP-HP, Paris, France.
Jazyk: angličtina
Zdroj: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2024 Mar; Vol. 38 (3), pp. e222-e226. Date of Electronic Publication: 2023 Oct 16.
DOI: 10.1111/jdv.19545
Databáze: MEDLINE
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