|Publication Type||Journal Article|
|Year of Publication||2012|
|Authors||Dauber, A, Stoler, J, Hechter, E, Safer, J, Hirschhorn, JN|
|Journal||The Journal of pediatrics|
We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders.