Use of congenital hypertrophy of the retinal pigment epithelium as a clinical sign of familial adenomatous polyposis

To evaluate the presence of congenital hypertrophy of the retinal pigment epithelium in a large family affected by familial adenomatous polyposis and identify the causative mutation in the adenomatous polyposis coli gene. Thus, we aimed to determine the significance of congenital hypertrophy of the...

Ausführliche Beschreibung