Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence
This study highlights the importance of incorporating split-read analysis in clinical practice and emphasizes the association of null variants in AGRN with the FADS. To the best of our knowledge, this is the second report explaining FADS and null variants in AGRN .
Authors
- Mangalore S. Shravya
- Katta M. Girisha
- Shalini S. Nayak (ORCID: https://orcid.org/0000-0001-9521-7031)
- Ankur Chaurasia (ORCID: https://orcid.org/0000-0002-7890-4590)
Institutions
- Manipal Academy of Higher Education (IN)
- University of Manchester (GB)
- Genomics (United Kingdom) (GB)
- Sultan Qaboos University (OM)
- Kasturba Medical College, Manipal (IN)
Publication Details
- Journal
- Clinical Dysmorphology
- Published
- 2025-01-10
- DOI
- https://doi.org/10.1097/mcd.0000000000000517
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- Kasturba Medical College, Manipal
- Department of Biotechnology, Ministry of Science and Technology, India
- The Wellcome Trust DBT India Alliance