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

Publication TypeJournal Article
AuthorsDauber, A., Stoler J., Hechter E., Safer J., and Hirschhorn JN
AbstractWe 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.
Year of Publication2012
JournalThe Journal of pediatrics
Date Published (YYYY/MM/DD)2012/09/10
ISSN Number0022-3476
DOI10.1016/j.jpeds.2012.07.055
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/22974575?dopt=Abstract