Condition: Winter Shortland Temple syndrome


rs879255280 in SMO gene and Winter Shortland Temple syndrome PMID 27236920 2016 A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

PMID 24859340 2014 Identification of recurrent SMO and BRAF mutations in ameloblastomas.