hrp0082p1-d2-213 | Reproduction (1) | ESPE2014
, Bouvagnet Patrice
, Rochette Galliane
, de Roux Nicolas
Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and faces muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...