The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Amanda NagyFrancine MolaySarah HargadonClaudia Brito PiresNatalie GrantLizbeth De La Rosa AbreuJin Yun ChenPrecilla D'SouzaEllen MacnamaraCynthia TifftCatherine BeckerClaudio Melo De GusmaoVikram KhuranaAnn M NeumeyerFlorian S EichlerPublished in: Orphanet journal of rare diseases (2024)
TBL1XR1-related disorder encompasses a spectrum of clinical presentations, marked by early developmental delay ranging in severity, with a subset of patients experiencing developmental regression in later childhood.