TY - JOUR T1 - Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis. JF - Journal of Medical Genetics JO - J Med Genet SP - 728 LP - 731 DO - 10.1136/jmg.32.9.728 VL - 32 IS - 9 AU - D J Bunyan AU - J Shea-Simonds AU - A C Reck AU - D Finnis AU - D M Eccles Y1 - 1995/09/01 UR - http://jmg.bmj.com/content/32/9/728.abstract N2 - Nine new causative mutations and seven previously characterised mutations of the APC gene of patients with familial adenomatous polyposis (FAP) were analysed for any genotype-phenotype correlations. The only clear genotype-phenotype correlation found was between the position of the mutation site and the presence or absence of congenital hypertrophy of the retinal pigment epithelium (CHRPE). A more distal mutation site was associated with an earlier age of onset of symptoms and a larger number of colonic polyps, but a notable amount of intrafamilial variation was observed. ER -