NPC1 and nasopharyngeal carcinoma: In the present work, we describe the clinical, biochemical and molecular profiles of two Greek NPC patients; a 12-year old female (Patient 1) with two novel NPC1 mutations (IVS23 + 3insT and p. K1057R), and her cousin (Patient 2), a boy homozygous for the IVS23 + 3insT mutation.