Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder
A Dauber, J Stoler, E Hechter, J Safer… - The journal of …, 2013 - Elsevier
A Dauber, J Stoler, E Hechter, J Safer, JN Hirschhorn
The journal of pediatrics, 2013•ElsevierWe 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.
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.
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.
Elsevier