PTEN mutation in a family with Cowden syndrome and autism
- 8 August 2001
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 105 (6) , 521-524
- https://doi.org/10.1002/ajmg.1477
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.Keywords
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