LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
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In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrom... ...