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Table 1 Genotype/Phenotype correlations of extracolonic manifestations in patients with familial adenomatous polyposis and attenuated familial adenomatous polyposis

From: Multiple splenic hamartomas and familial adenomatous polyposis: a case report and review of the literature

Phenotype

Exon of APC gene Codon position

Papillary thyroid carcinoma

3–15 exons Codons 140–1309

Hepatoblastoma

3–15 exons Codons 141–1578

Congenital hypertrophy of retinal pigment epithelium (CHRPE)

10–15 exons Codons 463–1445

Osteomas

15 exon Codons 767–1578

Desmoids

15 exon Codons 1309–1580