Expanding the phenotypic spectrum of TRAF7-related CAFDADD: report of eleven new cases and literature review.
Year: 2024
Type: article
Study design: Observational Study
Authors: Palma-Milla, Carmen, Prat-Planas, Aina, Soengas-Gonda, Emma, Centeno-Pla, Mónica, Sánchez-Pozo, Jaime, Lazaro-Rodriguez, Irene, Quesada-Espinosa, Juan F., Arteche-Lopez, Ana, Olival, Jonathan, Pacio-Miguez, Marta, Palomares-Bralo, María, Santos-Simarro, Fernando, Cancho-Candela, Ramón, Vázquez-López, María, Seidel, Veronica, Martinez-Monseny, Antonio F., Casas-Alba, Didac, Grinberg Vaisman, Daniel Raúl, Balcells Comas, Susana, Serrano, Mercedes, Rabionet Janssen, Raquel, Martin, Miguel A., Urreizti, Roser
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7112862546