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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

Papers overview

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The purpose of this research was to use next generation sequencing to identify mutations in patients with primary… Expand
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SHORT syndrome (OMIM 269880) is a rare autosomal‐dominant disorder characterized by short stature, hyperextensibility of joints… Expand