Novel genomic variants associated with polysplenia, situs inversus
totalis, atrial septal defect and double outlet right ventricle in Saudi
AbstractIn this case study, we reported a case of 8-year-old Saudi patient
diagnosed with polysplenia, situs inversus totalis and double outlet
right ventricle. We identified five novel missense mutation in three
genes GATA4, NIPBL and APC as causative mutations and could be used for
early detecting of polysplenia syndrome.