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KMID : 1100820230130030165
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Laboratory Medicine Online
2023 Volume.13 No. 3 p.165 ~ p.171
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Cowden Syndrome: A Review
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Jung Ye-Ryeong
Jun Ji-Young
Lee See-Youn
Ryu Kum-Hei
Lee Dong-Ock
Chang Yoon-Jung
Jung So-Youn
Kong Sun-Young
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Abstract
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Cowden syndrome is a rare autosomal dominant genetic disease, with an estimated prevalence of 1/200,000 with majority of PTEN germline mutation. Diagnostic criteria of Cowden syndrome have been changed and several disease criteria were included. Herein, we described Cowden syndrome related disease, and it would be helpful to review this rare disease when the patients come for genetic counseling.
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KEYWORD
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Cowden syndrome, PTEN, PTEN hamartoma syndrome, Genetic counseling
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