Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis
The NH-CSS missed 9-55% of monogenic SRS. The diverse phenotypes of PLAG1, CDKN1C, HMGA2 and IGF2 variants may hinder a clinical diagnosis of SRS. These rarer (epi)genotypes could be considered as distinct entities.
Authors
- JH Davies
- Miho Ishida (ORCID: https://orcid.org/0000-0002-4769-2273)
- Helen L. Storr (ORCID: https://orcid.org/0000-0002-9963-1931)
- Uttara Kurup (ORCID: https://orcid.org/0009-0007-9941-3161)
- David B. N. Lim
- Avinaash V. Maharaj
Institutions
- University Hospital Southampton NHS Foundation Trust (GB)
- William Harvey Research Institute (GB)
- University of Southampton (GB)
Publication Details
- Journal
- Clinical Epigenetics
- Published
- 2025-12-22
- DOI
- https://doi.org/10.1186/s13148-025-02023-7
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00