A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome.

This report details the initial case of the classical Mitchell Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene which have previously not been reported in patients with this syndrome. PMID: 26761945 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research