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Ruvalcaba Syndrome

 
National Institutes of Health

Papers overview

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2016
2016
A 24-year old male with a history of Bannayan–Riley– Ruvalcaba syndrome (BRRS) and a confirmed phosphatase and tensin homolog… Expand
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2010
2010
 
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Highly Cited
2007
Highly Cited
2007
BACKGROUND The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan-Riley-Ruvalcaba syndrome… Expand
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Review
2000
Review
2000
 
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Review
2000
Review
2000
In 1971, Ruvalcaba et. al. described a familial multiple congenital anomaly syndrome characterized by skeletal dysplasia, short… Expand
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1990
1990
Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were… Expand
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Review
1989
Review
1989
The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental… Expand
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1985
1985
 
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1984
1984
An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal… Expand
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