Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Titel:
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Auteur:
Stephen, Joshi Maddirevula, Sateesh Nampoothiri, Sheela Burke, John D. Herzog, Matthew Shukla, Anju Steindl, Katharina Eskin, Ascia Patil, Siddaramappa J. Joset, Pascal Lee, Hane Garrett, Lisa. J. Yokoyama, Tadafumi Balanda, Nicholas Bodine, Steven P. Tolman, Nathanial J. Zerfas, Patricia M. Zheng, Allison Ramantani, Georgia Girisha, Katta M. Rivas, Cecilia Suresh, Pujar V. Elkahloun, Abdel Alsaif, Hessa S. Wakil, Salma M. Mahmoud, Laila Ali, Rehab Prochazkova, Michaela Kulkarni, Ashok B. Ben-Omran, Tawfeg Colak, Dilek Morris, H. Douglas Rauch, Anita Martinez-Agosto, Julian A. Nelson, Stanley F. Alkuraya, Fowzan S. Gahl, William A. Malicdan, May Christine V.