Article
LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.
Revista espanola de cardiologia (English ed.) - 1 May 2013
Carcavilla Atilano, Santomé José L, Pinto Isabel, Sánchez-Pozo Jaime, Guillén-Navarro Encarna, Martín-Frías María, Lapunzina Pablo, Ezquieta Begoña
Abstract excerpt
INTRODUCTION AND OBJECTIVES: LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD syndrome patients. METHODS: We collected clinical data from 19 patients in 10 hospitals. Bidirectional sequencing analysis of PTPN11, RAF1, and BRAF focused on...
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