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Sophie De Tocqueville
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Journal Articles

Somatic genetic rescue in ZCCHC8-associated telomere biology disorders

Open Access
Sophie De Tocqueville, Flavia Donaires, Nicholas F DeCleene, Ibrahima Ba, Mina Nouri, Laëtitia Kermasson, Malika Chelbi, Emmanuel Bergot, Thierry M Leblanc, Raphael Borie, Quentin Philippot, Elise Antone, Grégoire Prevot, Elodie Blanchard, Boris Keren, Elodie Lainey, Marilia Bazzo Catto, Barbara A. Santana, Settara C. Chandrasekharappa, Frank X. Donovan, Luiz Fernando Bazzo Catto, Isabelle Callebaut, Neal S. Young, Carine Halfon-Domenech, Rodrigo T. Calado, Alison A. Bertuch, Fernanda Gutierrez-Rodrigues, Caroline Kannengiesser, Patrick Revy
Journal: Blood
Blood blood.2025031248.
https://doi.org/10.1182/blood.2025031248
Published: 2025
Includes: Supplemental data
Journal Articles

Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q

Free
Flavia S. Donaires, Sophie de Tocqueville, Marilia Bazzo Catto, Luiz Fernando Bazzo Catto, Emma M. Groarke, Barbara A. Santana, Settara C Chandrasekharappa, Frank X. Donovan, Carine Halfon-Domenech, Neal S. Young, Caroline Kannengiesser, Rodrigo T. Calado, Patrick Revy, Fernanda Gutierrez-Rodrigues
Journal: Blood
Blood (2024) 144 (Supplement 1): 1330.
https://doi.org/10.1182/blood-2024-205711
Published: 2024