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skos:definition |
JABL: A syndrome originally reported (Ruvalcaba) as an association of macrocephaly, intestinal polyposis, and pigmentation of the penis, Bannayan later described it as a separate entity of macrocephaly, multiple lipomas, and hemangiomas, and Riley and Smith observed a concurrence of macrocephaly, pseudoepithelioma, and multiple hemangioma. The three conditions were recognized by Dvir as different expressions of the same syndrome. The symptoms usually first become apparent in infancy but they may also appear later in life.,NCI: A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
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