Open access
128
Views
0
CrossRef citations to date
0
Altmetric
Case reports
Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra‐Skeletal Organ Involvement
Ali Alsuheel Asseri1 Department of Child Health, King Khalid University, Abha, 61421, Saudi ArabiaCorrespondence[email protected]
https://orcid.org/0000-0001-9858-9789View further author information
, https://orcid.org/0000-0001-9858-9789View further author information
Ahmad A Alzoani2 Department of Neonatology, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information
, Mohammed Almahdi3 Department of Pediatrics, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information
, Hussein Almahdi4 College of Medicine, King Khalid University, Abha, 61421, Saudi ArabiaView further author information
, Nouf Almushayt3 Department of Pediatrics, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information
, Noha Saad Alyazidi3 Department of Pediatrics, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information
& Basmah Mohammed Al Mufarrih5 Department of Obstetrics and Gynecology, Abha Maternity and Children Hospital, Ministry of Health, Abha, 62521, Saudi ArabiaView further author information
show all
Pages 209-214
|
Received 31 Oct 2023, Accepted 18 Mar 2024, Published online: 23 Mar 2024
Reprints and Permissions
Permission is granted subject to the terms of the License under which the work was published. Permission will be required if your reuse is not covered by the terms of the License.
To request a reprint or commercial or derivative permissions for this article, please click on the relevant link below.
For more information please visit our Permissions help page.
Related research
People also read lists articles that other readers of this article have read.
Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.
Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.