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Article

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

Clinical dysmorphology - 1 Apr 2012

O'Rourke Declan John, Twomey Eilish, Lynch Sally-Ann, King Mary D

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22327138
DOI: 10.1097/MCD.0b013e328351639d

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.PMID 22327138Read ↗

A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty.Semantic proximity Read ↗

The spectrum and evolution of phenotypic findings in <i>PTEN</i> mutation positive cases of Bannayan-Riley-Ruvalcaba syndromeSemantic proximity Read ↗

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.Semantic proximity Read ↗

Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.Semantic proximity Read ↗

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

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

Airway obstruction caused by PTEN hamartoma (Bannayan-Riley-Ruvalcaba) syndrome.Semantic proximity Read ↗

[Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis in a two-year-old girl].Semantic proximity Read ↗

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

Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.Semantic proximity Read ↗

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

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

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