SOX9 and Cowden disease: 2013). In addition, chromosomal rearrangements including translocations, inversions, and deletions that do not affect the gene body but instead interrupt the SOX9 regulatory domain, which extends over more than 1 Mb upstream of SOX9, can also result in CD of varying severity. In these cases, removal of long‐range tissue‐specific enhancers is assumed to affect SOX9 expression (Gordon et al. 2009).