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Title: PTEN mutation in a family with Cowden syndrome and autism
Authors: Goffin, Aleide ×
Hoefsloot, L H
Bosgoed, E
Swillen, Ann
Fryns, Jean-Pierre #
Issue Date: Aug-2001
Series Title: American Journal of Medical Genetics vol:105 issue:6 pages:521-4
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.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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