학술논문
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Document Type
Article
Author
Whitman, M.C.; MacKinnon, S.; Hunter, D.G.; Barry, B.J.; Chan, W.-M.; Engle, E.C.; Robson, C.D.; Facio, F.M.; Van Ryzin, C.; Lee, P.R.; Collins, F.S.; Manoli, I.; Lehky, T.J.; Thurm, A.; Zalewski, C.; King, K.A.; Brewer, C.; Almpani, K.; Lee, J.S.; Webb, B.D.; Delaney, A.; FitzGibbon, E.J.; Toro, C.; Paul, S.M.; Abdul-Rahman, O.A.; Jabs, E.W.; Moller, H.U.; Larsen, D.A.; Antony, J.H.; Troedson, C.; Ma, A.; Ragnhild, G.; Wirgenes, K.V.; Tham, E.; Kvarnung, M.; Maarup, T.J.
Source
In: Human Genetics . (Human Genetics, December 2021, 140(12):1709-1731)
Subject
Language
English
ISSN
14321203
03406717
03406717