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Sophie de Tocqueville
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Journal Articles

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

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