Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
双等位基因TMEM94截断变异与神经发育迟缓、先天性心脏缺陷和独特的面部畸形有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.11.001
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