In general, most CD patients had a genotype-phenotype correlation consistent with prior reports, that is, we found CHST6 mutations in 23/28 stromal CD patients with macular appearance, TGFBI mutations in all the 22 patients with epithelial–stromal CD, as well as SLC4A11 mutations in 4/5 patients with congenital endothelial CD. This evidence concerns the gene CHST6 and Cowden disease.