From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in theMYBPC3gene
β Scribed by Adam Jacques; Anita C. Hoskins; Jonathan C. Kentish; Steven B. Marston
- Publisher
- Springer Netherlands
- Year
- 2008
- Tongue
- English
- Weight
- 384 KB
- Volume
- 29
- Category
- Article
- ISSN
- 0142-4319
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## 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
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