Homozygosity Mapping and Exome Sequencing Reveal <i>GATAD1</i> Mutation in Autosomal Recessive Dilated Cardiomyopathy

Abstract excerpt

BACKGROUND: Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder that typically exhibits autosomal dominant inheritance. Genomic strategies enable discovery of novel, unsuspected molecular underpinnings of familial DCM. We performed genome-wide mapping and exome sequencing in a unique family wherein DCM segregated as an autosomal recessive (AR) trait. METHODS AND RESULTS:...

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