Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Sonja Neuser(Leipzig University), Darius Ebrahimi‐Fakhari(Boston Children's Hospital), Siddharth Srivastava(Boston Children's Hospital), Jennifer E. Posey(Baylor College of Medicine), Michael Zech(Helmholtz Zentrum München), Omar Ismayl(Shaikh Khalifa Medical City), Lauren O’Grady(Massachusetts General Hospital), Volker Mall(German Center for Pediatric and Adolescent Rheumatology), Barbara Brechmann(Boston Children's Hospital), Robert J. Graham(Boston Children's Hospital), Fatima Khan(The University of Texas Southwestern Medical Center), Susanna Schubert(Leipzig University), Jens Meiler(Leipzig University of Applied Sciences), Stéphanie Efthymiou(Queen Mary University of London), M. Cecilia Poli(Universidad del Desarrollo), Bat El Bar‐Aluma(Tel Aviv University), Shahnaz Ibrahim(Aga Khan University Hospital), Yasemin Dincer(Zentrum für Pränataldiagnostik), Karima Maher(Shaikh Khalifa Medical City), Isabella Herman(Texas Children's Hospital), Bruria Ben‐Zeev(Tel Aviv University), Usha Kini(Oxford University Hospitals NHS Trust), Gabriela M. Repetto(Universidad del Desarrollo), Asma E. Al Nuaimi(Shaikh Khalifa Medical City), Hesham Aldhalaan(King Faisal Specialist Hospital & Research Centre), Alistair T. Pagnamenta(University College London), Wen‐Hann Tan(Boston Children's Hospital), Ines Brösse(Heidelberg University), Bernt Popp(Friedrich-Alexander-Universität Erlangen-Nürnberg), Gali Heimer(Edmond and Lily Safra Children's Hospital), Christian Behrends(LMU Klinikum), Vijayalakshmi Salem Ramakumaran, David A. Sweetser(Massachusetts General Hospital), Angelika Seitz(Heidelberg University), Amir Szeinberg(Tel Aviv University), Barry J. Byrne(University of Florida Health), Gehad ElGhazali(Shaikh Khalifa Medical City), T. De Haro Muñoz(Universidad del Desarrollo), Basil T. Darras, Rami Abou Jamra(Leipzig University), Mandy Krumbiegel(Friedrich-Alexander-Universität Erlangen-Nürnberg), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Fowzan S. Alkuraya(Alfaisal University), Juliane Winkelmann(TUM Klinikum), Yael Haberman(Cincinnati Children's Hospital Medical Center), Amal Al Tenaiji(Shaikh Khalifa Medical City), Parul Jayakar(Miami Children's Hospital), James R. Lupski(Baylor College of Medicine)
Human Mutation
April 13, 2021
Cited by 31


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