A novel variant in SIAH1 associated with autosomal dominant Buratti-Harel syndrome
This study expands the mutational spectrum of <i>SIAH1</i>-associated disorders. We advocate for the inclusion of <i>SIAH1</i> in diagnostic panels for patients with unexplained neurodevelopmental disorders and multisystem dysmorphisms.
Authors
- Lan Zhang (ORCID: https://orcid.org/0000-0002-9714-999X)
- Hong Zheng (ORCID: https://orcid.org/0000-0003-4819-6498)
- Fuwei Li
Institutions
- First Affiliated Hospital of Henan University (CN)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2026-01-07
- DOI
- https://doi.org/10.3389/fnins.2025.1677646
- Primary Topic
- Histiocytic Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00