Genetics in medicine : official journal of the American College of Medical Genetics
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
Irene Valenzuela, Marta Codina-Solà, Elida Vazquez, Anna Cueto-González, Jordi Leno-Colorado, Amaia Lasa-Aranzasti, Laura Trujillano, Bárbara Masotto, Miriam Masas, Mar Escobar, Elena García-Arumí, Eduardo F Tizzano
Published: 202610.1016/j.gim.2025.101633
No abstract available for this study.