Expanding the phenotype of GTF2E2‐associated trichothiodystrophy-Reference-Cited by-同舟云学术

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Expanding the phenotype of GTF2E2‐associated trichothiodystrophy

Published:2023-10-16 Issue: Volume: Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Sperelakis‐Beedham Brian¹²^ORCID,Ruaud Lyse¹,Vial Yoann¹^ORCID,Rachid Myriam¹³,Ageorges Faustine¹,Goujon Louise¹,Verloes Alain¹,Tabet Anne‐Claude¹²³,Bourrat Emmanuelle⁴,Lévy Jonathan¹²

Affiliation:

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

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.19545

Reference10 articles.

1. Trichothiodystrophy: From basic mechanisms to clinical implications

2. Trichothiodystrophy: Update on the sulfur-deficient brittle hair syndromes

3. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

4. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy

5. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue

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