Article
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
Birth defects research. Part A, Clinical and molecular teratology - 1 Feb 2004
Digilio M Cristina, Pacileo Giuseppe, Sarkozy Anna, Limongelli Giuseppe, Conti Emanuela, Cerrato Fabiana, Marino Bruno, Pizzuti Antonio, Calabrò Raffaele, Dallapiccola Bruno
Abstract excerpt
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 associated with HCM. Additional features of the syndrome include multiple lentigines, facial anomalies, sensorineural deafness, and...
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