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Article

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

American journal of medical genetics - 5 Sept 1997

Arch E M, Goodman B K, Van Wesep R A, Liaw D, Clarke K, Parsons R, McKusick V A, Geraghty M T

Abstract excerpt

We report on an 18-month-old boy with an interstitial deletion at 10q23.2-q24.1. This region includes the PTEN gene, mutations of which have been reported to cause Cowden disease. Our patient presented with manifestations of Bannayan-Riley-Ruvalcaba (BRR) syndrome. The BRR syndrome is a rare diso...

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Source

Identifiers

PMID: 9286463

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9286463-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.PMID 9286463Read ↗

An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family.Semantic proximity Read ↗

Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.Semantic proximity Read ↗

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.Semantic proximity Read ↗

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

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.Semantic proximity Read ↗

Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.Semantic proximity Read ↗

Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.Semantic proximity Read ↗

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.Semantic proximity Read ↗

PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.Semantic proximity Read ↗

Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.Semantic proximity Read ↗

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.Semantic proximity Read ↗

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.Semantic proximity Read ↗

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