Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement

Asseri AA, Alzoani AA, Almahdi M, Almahdi H, Almushayt N, Alyazidi NS, Al Mufarrih BM

International Medical Case Reports Journal 2024, 17:209-214

Published Date: 23 March 2024