학술논문
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Document Type
Artikel
Author
Whitman, MC; Barry, BJ; Robson, CD; Facio, FM; Van Ryzin, C; Chan, WM; Lehky, TJ; Thurm, A; Zalewski, C; King, KA; Brewer, C; Almpani, K; Lee, JS; Delaney, A; FitzGibbon, EJ; Lee, PR; Toro, C; Paul, SM; Abdul-Rahman, OA; Webb, BD; Jabs, EW; Moller, HU; Larsen, DA; Antony, JH; Troedson, C; Ma, A; Ragnhild, G; Wirgenes, K; Tham, E; Kvarnung, M; Maarup, TJ; MacKinnon, S; Hunter, DG; Collins, FS; Manoli, I; Engle, EC
Source
Human genetics. 141(140):1709-1731
Subject
Language
English
English
English
ISSN
1432-1203