Bannayan-Riley-Ruvalcaba Syndrome

Known as: Bannayan-Ruvalcaba-Riley Syndrome, Ruvalcaba Myhre Smith Syndrome, Riley Smith Syndrome 
A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
National Institutes of Health

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Papers overview

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2009
2009
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
BACKGROUND Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by macrocephaly… (More)
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2006
2006
Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.
Cutaneous lipoma is rare in children, but it can be part of a syndrome such as the Bannayan-Riley-Ruvalcaba syndrome (BRRS). The… (More)
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2006
2006
Dural arteriovenous malformation in a child with Bannayan-Riley-Ruvalcaba Syndrome.
Intracranial arteriovenous malformations (AVM) are a rare feature of Bannayan-Riley-Ruvalcaba syndrome (BRRS). Palencia et al… (More)
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2005
2005
Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome.
Bannayan-Riley-Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital… (More)
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Highly Cited
2003
Highly Cited
2003
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.
Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with… (More)
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Highly Cited
1999
Highly Cited
1999
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical… (More)
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Highly Cited
1998
Highly Cited
1998
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403 amino acid dual specificity phosphatase (protein… (More)
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1997
1997
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
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… (More)
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1996
1996
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome.
BACKGROUND The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions… (More)
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Highly Cited
1992
Highly Cited
1992
Bannayan-Riley-Ruvalcaba syndrome.
Here we report on 12 affected members of a family with Bannayan-Riley-Ruvalcaba syndrome. We present clinical evidence of overlap… (More)
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