Autosomal dominant polycystic kidney disease (ADPKD) may be associated with a variety of cardiovascular complications, including intracranial saccular aneurysms. In ADPKD, intracranial saccular aneurysms tend to rupture more frequently and earlier…
We describe four families with a strong familial expression of Barrett's/gastroesophageal reflux disease (GERD) complex spanning one to four generations with two to seven affected members per family. The purpose of this report is to highlight genetic…
Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in heterozygotes and homozygotes, respectively. We report seven…