Table 2 Clinical and molecular findings of patient 1 and 2
From: Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects
Genotype | Protein alteration | Phenotype | |
|---|---|---|---|
Proband 1 | DAND5 c.455GA | DAND5 p.R152H | Left isomerism; VSD with overriding aorta; Pulmonary atresia |
Proband 2 | DAND5 c.455GA | DAND5 p.R152H | Tetralogy of Fallot; Pulmonary atresia |