Genetic & Genomic MedicineHuman MutationPeer-reviewed
Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Sonja Neuser, Barbara Brechmann, Gali Heimer…·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.
32 citations