Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement
Ali Alsuheel Asseri, Ahmad A. Alzoani, Mohammed Almahdi, Hussein Almahdi, Nouf Almushayt, Noha Saad Alyazidi, Basmah Mohammed Al MufarrihKing Khalid University. Abha Maternity and Children Hospital and Ministry of Health. Saudi Arabia International Medical Case Reports JournalInt Med Case Rep J 2024; 17: 209-214DOI: 10.2147/IMCRJ.S447466 AbstractJeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal […]