SOX9 and Cowden disease: The SOX9 mutant, SOX9-A158T causes CD/SRA with 46,XY gonadal dysgenesis, due to defects in SOX9 nuclear import and DNA binding [40], whereas the SOX9-A76E mutant is encoded by a CD patient without 46,XY gonadal dysgenesis and lacks the ability to dimerize [41].