De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Author:
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.ORCID