Biallelic Loss of Function Variant in <scp><i>SEC31A</i></scp> Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects
Biallelic loss of function variant in SEC31A is associated with lethal neurodevelopmental disorder, dysmorphic features, and skeletal defects.
Authors
- Aziza Mufareh Mushiba (ORCID: https://orcid.org/0000-0001-5795-6423)
- Jamil Amjad Hashmi (ORCID: https://orcid.org/0000-0001-8598-8799)
- Naif A. M. Almontashiri (ORCID: https://orcid.org/0000-0003-3607-395X)
- Essa Alharby
- Haya Alruqi (ORCID: https://orcid.org/0009-0005-3429-6772)
Institutions
- Taibah University (SA)
- King Fahd Medical City (SA)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2024-12-26
- DOI
- https://doi.org/10.1111/cge.14680
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.10