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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cowden syndrome
Comorbidity C0018552|hamartoma
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PubMedID- 26488716 Pten hamartoma tumor syndrome, of which cowden syndrome (cs) is the most recognized variant, is characterized by multiple benign and malignant tumors of ectodermal, mesodermal, and endodermal origins, secondary to germline mutation in the phosphatase and tensin homolog (pten) gene.

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