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Short stature can be caused by mutations in a multitude of different genes. 3-M syndrome is a rare growth disorder marked by severe pre- and postnatal growth retardation along with subtle dysmorphic features. There have only been 2 prior reports of mutations in CCDC8 causing 3-M syndrome.

Two Siblings with a Mutation in <b><i>CCDC8</i></b> Presenting with Mild Short Stature: A Case of 3-M Syndrome