Mutations in TUBB4B Cause a Distinctive Sensorineural Disease

Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. Am J Hum Genet. 2017 Dec 7;101(6):1006-1012.