Article

Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Human mutation - 1 Jun 2021

Neuser Sonja, Brechmann Barbara, Heimer Gali, Brösse Ines, Schubert Susanna, O'Grady Lauren, Zech Michael, Srivastava Siddharth, Sweetser David A, Dincer Yasemin, Mall Volker, Winkelmann Juliane, Behrends Christian, Darras Basil T, Graham Robert J, Jayakar Parul, Byrne Barry, Bar-Aluma Bat El, Haberman Yael, Szeinberg Amir, Aldhalaan Hesham M, Hashem Mais, Al Tenaiji Amal, Ismayl Omar, Al Nuaimi Asma E, Maher Karima, Ibrahim Shahnaz, Khan Fatima, Houlden Henry, Ramakumaran Vijayalakshmi S, Pagnamenta Alistair T, Posey Jennifer E, Lupski James R, Tan Wen-Hann, ElGhazali Gehad, Herman Isabella, Muñoz Tatiana, Repetto Gabriela M, Seitz Angelika, Krumbiegel Mandy, Poli Maria Cecilia, Kini Usha, Efthymiou Stephanie, Meiler Jens, Maroofian Reza, Alkuraya Fowzan S, Abou Jamra Rami, Popp Bernt, Ben-Zeev Bruria, Ebrahimi-Fakhari Darius