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

Mary C. Whitman, Brenda J. Barry, Caroline D. Robson, Flavia M. Facio, Carol Van Ryzin, Wai Man Chan, Tanya J. Lehky, Audrey Thurm, Christopher Zalewski, Kelly A. King, Carmen Brewer, Konstantinia Almpani, Janice S. Lee, Angela Delaney, Edmond J. FitzGibbon, Paul R. Lee, Camilo Toro, Scott M. Paul, Omar A. Abdul-Rahman, Bryn D. WebbEthylin Wang Jabs, Hans Ulrik Moller, Dorte Ancher Larsen, Jayne H. Antony, Christopher Troedson, Alan Ma, Glad Ragnhild, Katrine V. Wirgenes, Emma Tham, Malin Kvarnung, Timothy James Maarup, Sarah MacKinnon, David G. Hunter, Francis S. Collins, Irini Manoli, Elizabeth C. Engle

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