Article
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome.
Hormone research in paediatrics - 1 Jan 2017
Liao Lihong, Gan Hoong-Wei, Hwa Vivian, Dattani Mehul, Dauber Andrew
Abstract excerpt
BACKGROUND: 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. METHODS: Two patients presenting with mild short stature underwent whole exome sequencing. The mutation was...
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