Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency
Tremblay-Laganière, Camille, Michaud, Coralie, Abourjaili-Bilodeau, Raphaël, Cabezas, Alicia, Canales, José, Costas, María Jesús, Ribeiro, João M, Leclerc-Blain, Jessica, Touzot, Fabien, Haddad, Elie, Teira, Pierre, Duval, Michel, Onoufriadis, Alexandros, Meunier, Brigitte, Cameselle, José Carlos, Campeau, Philippe M
Published in Journal of medical genetics (01.09.2024)
Published in Journal of medical genetics (01.09.2024)
Get full text
Journal Article
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Di Lazzaro Filho, Ricardo, Yamamoto, Guilherme Lopes, Silva, Tiago J, Rocha, Leticia A, Linnenkamp, Bianca D W, Castro, Matheus Augusto Araújo, Bartholdi, Deborah, Schaller, André, Leeb, Tosso, Kelmann, Samantha, Utagawa, Claudia Y, Steiner, Carlos E, Steinmetz, Leandra, Honjo, Rachel Sayuri, Kim, Chong Ae, Wang, Lisa, Abourjaili-Bilodeau, Raphaël, Campeau, Philippe M, Warman, Matthew, Passos-Bueno, Maria Rita, Hoch, Nicolas C, Bertola, Debora Romeo
Published in Journal of medical genetics (01.11.2023)
Published in Journal of medical genetics (01.11.2023)
Get full text
Journal Article