Article
Clinical and molecular analysis of RASopathies in a group of Turkish patients.
Clinical genetics - 1 Feb 2013
Şimşek-Kiper P Ö, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine G E, Zenker M, Boduroğlu K
Abstract excerpt
The 'RASopathies' are a group of disorders sharing many clinical features and a common pathophysiology. In this study, we aimed to clinically evaluate a group of Turkish patients and elucidate the underlying genetic etiology. Thirty-one patients with a clinical diagnosis of one of the RASopathy syndromes were included in the study. Of these, 26 (83.8%) had a clinical diagnosis of Noonan syndrome, whereas 5 had a...
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