Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q
Year: 2024
Type: conference-abstract
Source: Blood
Authors: 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
Institutions: Universidade de São Paulo, La Ligue Contre le Cancer, Institut des Maladies Génétiques Imagine, National Heart, Lung, and Blood Institute, National Institutes of Health, National Human Genome Research Institute, Institut d’Hématologie et d’Oncologie Pédiatrique, Assistance Publique – Hôpitaux de Paris, Hôpital Bichat-Claude-Bernard
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W4405041583