PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

M Cristina Digilio, Anna Sarkozy, Giuseppe Pacileo, Giuseppe Limongelli, Bruno Marino, Bruno Dallapiccola

European Journal of Pediatrics 2006 November

We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.

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