학술논문
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Document Type
Article
Author
Stephen, J.; Burke, J.D.; Yokoyama, T.; Bodine, S.P.; Gahl, W.A.; Malicdan, M.C.V.; Maddirevula, S.; Alsaif, H.S.; Wakil, S.M.; Alkuraya, F.S.; Nampoothiri, S.; Herzog, M.; Eskin, A.; Zheng, A.; Martinez-Agosto, J.A.; Nelson, S.F.; Shukla, A.; Girisha, K.M.; Steindl, K.; Joset, P.; Rauch, A.; Patil, S.J.; Lee, H.; Garrett, L.J.; Rivas, C.; Balanda, N.; Tolman, N.J.; Zerfas, P.M.; Ramantani, G.; Suresh, P.V.; Elkahloun, A.; Mahmoud, L.; Ali, R.; Ben-Omran, T.; Prochazkova, M.; Kulkarni, A.B.; Colak, D.; Morris, H.D.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 December 2018, 103(6):948-967)
Subject
Language
English
ISSN
15376605
00029297
00029297