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PTEN hamartoma tumor syndrome

Other syndromes include Bannayan-Ruvacalba syndrome, PTEN related Proteus syndrome, adult Lhermitte-Duclos disease, Proteus like syndrome, and autism spectrum disorder with macrocephaly.

Cowden in syndrome has an incidence of one in 200,000.

Cowden syndrome is an autosomal dominant disorder and most cases are associated with the germline PTEN P/LP variant.

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