期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 105, 期 6, 页码 521-524出版社
WILEY-LISS
DOI: 10.1002/ajmg.1477
关键词
PTEN mutation; Cowden syndrome; autism; multiple hamartoma syndrome
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. (C) 2001 Wiley-Liss, Inc.
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