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. Webb; Ethylin 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