PTEN mutation in a family with Cowden syndrome and autism
A Goffin, LH Hoefsloot, E Bosgoed… - American journal of …, 2001 - Wiley Online Library
A Goffin, LH Hoefsloot, E Bosgoed, A Swillen, JP Fryns
American journal of medical genetics, 2001•Wiley Online LibraryWe 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.© 2001 Wiley‐Liss, Inc.
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.© 2001 Wiley‐Liss, Inc.
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. © 2001 Wiley‐Liss, Inc.
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