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 101:1006-1012 (2017)
DOI:10.1016/j.ajhg.2017.10.010