SHORT syndrome

Known as: LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE, syndrome short, Lipodystrophy, Partial, With Rieger Anomaly, And Short Stature 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2014-2016
0120142016

Papers overview

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2017
2017
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent… (More)
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2016
2016
The purpose of this research was to use next generation sequencing to identify mutations in patients with primary… (More)
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2015
2015
Here, we describe a child, born from consanguineous parents, with clinical features of SHORT syndrome, high IGF1 levels… (More)
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2014
2014
SHORT syndrome (OMIM 269880) is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints… (More)
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