A Colombian Boy with a Novel de novo PURA Variant: A Case Report
In this report, we present a Colombian case of PURA syndrome. This case highlights the challenges associated with the early diagnosis of a newly described syndrome, in a limited-resources health system.
Authors
- Harry Pachajoa (ORCID: https://orcid.org/0000-0003-2672-0439)
- Laura Prieto (ORCID: https://orcid.org/0009-0001-3913-4597)
- Diana Marcela Vasquez-Forero (ORCID: https://orcid.org/0000-0001-9956-708X)
- Stiven Ernesto Sinisterra‐Díaz (ORCID: https://orcid.org/0000-0001-6971-2098)
- Laura Ordoñez (ORCID: https://orcid.org/0009-0007-7530-6345)
Institutions
- Fundación Valle del Lili (CO)
- Icesi University (CO)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-31
- DOI
- https://doi.org/10.1159/000541654
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00