Shprintzen-Goldberg syndrome

Known as: Shprintzen Golberg craniosynostosis syndrome, Marfanoid-Craniosynostosis Syndrome, Marfanoid craniosynostosis syndrome 
A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and… (More)
National Institutes of Health

Papers overview

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2014
2014
We describe the challenging case of a 28-year-old Jehovah's Witness patient who presented with symptomatic mitral and tricuspid… (More)
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Highly Cited
2014
Highly Cited
2014
Policymakers often assert that consumers undervalue future gasoline costs when they buy automobiles. We test this by measuring… (More)
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2013
2013
A common feature in people with Shprintzen-Goldberg syndrome is craniosynostosis, which is the premature fusion of certain skull… (More)
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2012
2012
We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS… (More)
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2012
2012
Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical… (More)
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2005
2005
The Shprintzen-Goldberg syndrome (SGS) is a disorder of unknown cause comprising craniosynostosis, a marfanoid habitus and… (More)
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2003
2003
OBJECTIVE The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. This is one of a group of… (More)
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Highly Cited
2002
Highly Cited
2002
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family… (More)
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Highly Cited
1996
Highly Cited
1996
Recent reports have described a distinct and recurrent pattern of systemic malformation that associates craniosynostosis and… (More)
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1996
1996
We report the case of a Japanese boy whose dysmorphic features were consistent with those of Shprintzen-Goldberg syndrome. The… (More)
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