Jansen, Sandra

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. [electronic resource] - American journal of human genetics Apr 2017 - 650-658 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2017.02.005 doi


Adolescent
Cell Cycle
Child
Child, Preschool
Exons
Humans
Intellectual Disability--genetics
Mutation
Protein Phosphatase 2C--genetics
Young Adult