Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

Irene Valenzuela, Marta Codina‐Solà, Elida Vazquez, Anna M. Cueto‐González, Jordi Leno-Colorado, Amaia Lasa‐Aranzasti, Laura Trujillano, Bárbara Masotto, Miriam Masas, Mar Escobar, Elena García‐Arumí, Eduardo F. Tizzano