PAX3 and Werner syndrome: We determined that 4 out of 15 patients (26.67%) carried mutations in genes related to WS: 1 patient was heterozygous for EDN3 c.293C>A, 1 was heterozygous for PAX3 c.238C>G, 1 was heterozygous for PAX3 c.808C>T, and 1 carried only one MITF c.651G>T mutation.