Novel WAC gene variant identified in the first documented case of DeSanto-Shinawi Syndrome in India
The findings advocate for increased awareness and genetic testing in atypical cases to facilitate accurate diagnosis and management. This case underscores the importance of considering DESSH in the differential diagnosis of similar neurodevelopmental disorders and enhances our understanding of the genetic diversity within the WAC gene.
Authors
- Vadakkekara Yesodharan Jayakrishnan
- Lakshita Chauhan
- Arti Nanda (ORCID: https://orcid.org/0000-0002-1223-3181)
- Aradhana Dwivedi
- Pramod Kumar (ORCID: https://orcid.org/0000-0001-5966-9815)
Institutions
- Indian Navy (IN)
- Army Hospital Research and Referral (IN)
Publication Details
- Journal
- Molecular and Cellular Pediatrics
- Published
- 2025-05-10
- DOI
- https://doi.org/10.1186/s40348-025-00193-1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00