Original paper
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
Abstract
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 syndrome and an unusual mutation in exon 13, showing genotype-phenotype...
Paper Details
Title
LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
Published Date
Jan 1, 2011
Volume
4
Issue
1
Pages
74 - 74