%0 Journal Article
%T LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
%A Ganigara Madhusudan
%A Prabhu Atul
%A Kumar Raghvannair
%J Annals of Pediatric Cardiology
%D 2011
%I Medknow Publications
%X 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 correlation.
%K Hypertrophic cardiomyopathy
%K LEOPARD syndrome
%K lentiginosis
%K PTPN11 mutation
%U http://www.annalspc.com/article.asp?issn=0974-2069;year=2011;volume=4;issue=1;spage=74;epage=76;aulast=Ganigara