High-precision characterisation of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using Oxford Nanopore long-read sequencing

Authors: Aldana Claps, Jorge E. Kolomenski, Franco Fernández, Natalia Macchiaroli, Marina L. Ingravidi, Marisol Delea, Cecilia Fernández, Tania Castro, Julieta Laiseca, Laura Kamenetzky, Melisa Taboas, Liliana Dain