Article
A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality.
European journal of gastroenterology & hepatology - 1 Jan 2004
Oku Takatomi, Takayama Tetsuji, Sato Yasuhiro, Sato Yasushi, Takada Koichi, Hayashi Tsuyoshi, Takahashi Minoru, Kuroda Mitsugu, Kato Junji, Niitsu Yoshiro
Abstract excerpt
A 25-year-old man with suspected Gardner syndrome was introduced to our hospital by a dentist who, during examination of the patient, had found dental dysplasias and multiple osteomas of the jaw. Radiographs, endoscopy and biopsies revealed adenomatous polyposis of the colon. Genetic analysis of peripheral lymphocytes revealed a one-base deletion at codon 1556 in exon 15 of APC, which caused a frame shift and a...
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