De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

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