King syndrome: A genetically heterogenous phenotype due to congenital myopathies

Familial aggregation of genetically hete

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

✍ M. Cristina Digilio; Giuseppe Pacileo; Anna Sarkozy; Giuseppe Limongelli; Emanue 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB 👁 1 views

## Abstract ## BACKGROUND Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically asso