article_metadata: Ali Alsuheel Asseri Ahmad A Alzoani Mohammed Almahdi Hussein Almahdi Nouf Almushayt Noha Saad Alyazidi Basmah Mohammed Al Mufarrih
article_metadata: 10.2147/IMCRJ.S447466
article_metadata: Int Med Case Rep J
article_metadata: 2024 Mar 23:17:209-214.
article_metadata: dync2h1 jeune syndrome srtd3 asphyxiating thoracic dystrophy
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38550721/
article_metadata: Case Reports
article_metadata: PMC10973697
article_metadata: 38550721
article_metadata: Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement
article_metadata: 2024