Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady, Michael Zech, Siddharth Srivastava, David A. Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T. Darras, Robert J. Graham, , Darius Ebrahimi‐Fakhari
The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.
Human Mutation · Apr 13, 2021Peer-reviewedGenetic & Genomic Medicine