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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… 
2010
2010
Ruvalcaba Syndrome Revisited Masanori Adachi,* Koji Muroya, Yumi Asakura, Kenji Kurosawa, Gen Nishimura, Satoshi Narumi, and… 
Highly Cited
2007
Highly Cited
2007
Background: The most commonly reported phenotypes described in patients with PTEN mutations are Bannayan–Riley–Ruvalcaba syndrome… 
2004
2004
An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal… 
Review
2000
Review
2000
  • T. Ishii
  • Ryoikibetsu shokogun shirizu
  • 2000
  • Corpus ID: 9020252
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by… 
Review
2000
Review
2000
In 1971, Ruvalcaba et. al. described a familial multiple congenital anomaly syndrome characterized by skeletal dysplasia, short… 
1990
1990
  • M. Partington
  • American journal of medical genetics. Supplement
  • 1990
  • Corpus ID: 29295744
Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were… 
Review
1989
Review
1989
The Ruvalcaba syndrome is a rare malformation syndrome characterized by skeletal dysplasia, facial anomalies, and mental… 
1985
1985
  • A. Hunter
  • American journal of medical genetics
  • 1985
  • Corpus ID: 27960479