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Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.

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Disorders of laterality are often associated with complex CHD. There is considerable debate about the appropriate terminology to describe these conditions. As our understanding of the genetic basis of these… Click to show full abstract

Disorders of laterality are often associated with complex CHD. There is considerable debate about the appropriate terminology to describe these conditions. As our understanding of the genetic basis of these disorders improves, it is likely that terminology will be dictated by the genetic aetiology. The genetic basis of laterality disorders in the Indian population has not been studied. We report two families with autosomal recessive inheritance of isomerism and homozygous variants in the GDF1 gene in affected family members.

Keywords: isomerism; complex chd; gdf1 gene; variants gdf1; homozygous variants

Journal Title: Cardiology in the young
Year Published: 2022

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