A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report
We report a novel mutation of SLCO2A1 gene causing severe persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy helping to delineate genotype-phenotype correlation of SLCO2A1 variants.
Authors
- Sachith Mettananda (ORCID: https://orcid.org/0000-0002-0760-0418)
- Padmapani Padeniya (ORCID: https://orcid.org/0000-0003-4197-9799)
- P. K. B. U. C. Bandara (ORCID: https://orcid.org/0000-0002-6930-9087)
- Manissha Rajeindran
Institutions
- University of Kelaniya (LK)
- Colombo North Teaching Hospital (LK)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-11-20
- DOI
- https://doi.org/10.1186/s12887-024-05252-6
- Citations
- 2
- Primary Topic
- Hypertrophic osteoarthropathy and related conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- University of Kelaniya