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Article

PTEN mutation in a family with Cowden syndrome and autism.

American journal of medical genetics - 8 Aug 2001

Goffin A, Hoefsloot L H, Bosgoed E, Swillen A, Fryns J P

Abstract excerpt

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...

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Source

Identifiers

PMID: 11496368
DOI: 10.1002/ajmg.1477

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PTEN mutation in a family with Cowden syndrome and autism.PMID 11496368Read ↗

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An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.Semantic proximity Read ↗

Cowden Syndrome with a Novel PTEN Mutation Presenting with Partial Epilepsy Related to Focal Cortical Dysplasia.Semantic proximity Read ↗

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PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Semantic proximity Read ↗

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