Rami Abu Hajji

Asphyxiating thoracic dystrophy associated with IFT74 pathogenic variant: a case report

Asphyxiating Thoracic Dystrophy (ATD) is a rare skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, and pulmonary hypoplasia. While typically linked to pathogenic variants in IFT80 or DYNC2H1 , recent genomic advancements have identified biallelic varian...