NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

ConclusionOur data further support a role for rare deleterious variants inNODAL as a cause for sporadic human laterality defects, expand the repertoire of observed anatomical complexity of potential cardiovascular anomalies, and implicate an allele specific gene dosage model.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research