BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics, Published online: 21 June 2023; doi:10.1038/s41431-023-01410-zBRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

Source: European Journal of Human Genetics - June 21, 2023 Category: Genetics & Stem Cells Authors: Camille Engel St éphanie Valence Geoffroy Delplancq Reza Maroofian Andrea Accogli Emanuele Agolini Fowzan S. Alkuraya Valentina Baglioni Irene Bagnasco Mathilde Becmeur-Lefebvre Enrico Bertini Ingo Borggraefe Elise Brischoux-Boucher Ange-Line Bruel Alfre Source Type: research