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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Subjects: Adult; Male; Pathology

  • Source: Whitman, M C, Barry, B J, Robson, C D, Facio, F M, Van Ryzin, C, Chan, W M, Lehky, T J, Thurm, A, Zalewski, C, King, K A, Brewer, C, Almpani, K, Lee, J S, Delaney, A, FitzGibbon, E J, Lee, P R, Toro,

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