Subject:
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Elucidation of hereditary disorders and their molecular diagnosis Opheldering van erfelijke ziekten en hun moleculaire diagnostiek |
Journal title:
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American Journal of Medical Genetics
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Abstract:
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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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