학술논문
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
Document Type
Article
Author
Serey-Gaut, M.; Cabrol, C.; Piard, J.; Van Maldergem, L.; Cortes, M.; Asleh, A.N.; Dar, M.A.; McNamara, A.; Essien Umanah, G.K.; Dawson, V.L.; Dawson, T.M.; Antonarakis, S.E.; Makrythanasis, P.; Suri, M.; Eason, J.; Taylor, A.M.R.; Dibra, H.K.; Byrd, P.J.; Stewart, G.S.; Sullivan, J.A.; Shashi, V.; Mitra, J.; Ha, T.; Dugan, S.; Westman, R.; Jungbluth, C.; Song, X.; Rosenfeld, J.A.; Pehlivan, D.; Roeder, E.R.; Littlejohn, R.O.; Lupski, J.R.; Akdemir, Z.C.; Iwaszkiewicz, J.; Zoete, V.; Posey, J.; Geckinli, B.B.; Sachdev, R.; Roscioli, T.; Evans, C.-A.; Nixon, C.Y.; Lemire, G.; VanNoy, G.E.; O'Donnell-Luria, A.; Mau-Them, F.T.; Juven, A.; Thauvin, C.; Zhu, Y.; Buckley, M.F.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 March 2023, 110(3):499-515)
Subject
Language
English
ISSN
15376605
00029297
00029297