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Case Reports
. 2001 Aug 8;105(6):521-4.
doi: 10.1002/ajmg.1477.

PTEN mutation in a family with Cowden syndrome and autism

A Goffin  1 , L H Hoefsloot, E Bosgoed, A Swillen, J P Fryns
Affiliations
Case Reports

PTEN mutation in a family with Cowden syndrome and autism

A Goffin et al. Am J Med Genet. .

Abstract

We report on a mother and son with Cowden syndrome and a PTEN mutation. The boy also exhibits autistic behavior and mental retardation, while his mother has a normal intelligence and social interaction pattern. We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations.

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