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The Journal of pediatrics DOI:10.1016/j.jpeds.2012.07.055

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder.

Publication TypeJournal Article
Year of Publication2012
AuthorsDauber, A, Stoler, J, Hechter, E, Safer, J, Hirschhorn, JN
JournalThe Journal of pediatrics
Date Published2012/09/10

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.