Identification of ade novomutation inTLK1associated with a neurodevelopmental disorder and immunodeficiency

Villamor-Payà, Marina; Sanchiz-Calvo, María; Smak, Jordann; Pais, Lynn; Sud, Malika; Shankavaram, Uma; Lovgren, Alysia Kern; Austin-Tse, Christina; Ganesh, Vijay S; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Palenzuela, Lluís; VanNoy, Grace; O’Donnell-Luria, Anne; Stracker, Travis H.