title: 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 correlation.
authors.affiliation: Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India.
authors.forename: Madhusudan
authors.initials: M
authors.lastname: Ganigara
authors.forename: Atul
authors.initials: A
authors.lastname: Prabhu
authors.forename: Raghvannair Suresh
authors.initials: RS
authors.lastname: Kumar