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Article

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

American journal of medical genetics. Part A - 15 Jan 2008

Boccone Loredana, Dessì Valentina, Serra Gigliola, Zibordi Federica, Loudianos Georgios

Abstract excerpt

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Topics

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Share to Base Sequence
Share to Cataract
Share to Child
Share to Consensus Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hamartoma Syndrome, Multiple

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Share to PTEN Phosphohydrolase

Share to RNA Splicing

Source

Identifiers

PMID: 18080326
DOI: 10.1002/ajmg.a.32086

Genes

PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.PMID 18080326Read ↗

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

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

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

PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.Semantic proximity Read ↗

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.Semantic proximity Read ↗

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.Semantic proximity Read ↗

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

Germline mutations in PTEN are present in Bannayan-Zonana syndromeSemantic proximity Read ↗

Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa.Semantic proximity Read ↗

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

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

A novel KIT frame-shift mutation in a large Chinese family with variably severe phenotypes of piebaldism.Semantic proximity Read ↗

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