Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country
In this Pakistani cohort, genetic testing clarified IBMFS diagnoses in 34% of cases, matching global yields. It enhanced diagnostic precision, informed management, and supported family counseling, though high VUS rates underscore the need for ongoing reclassification and multidisciplinary care.
Authors
- Syed Ibrahim Bukhari (ORCID: https://orcid.org/0009-0007-1805-1331)
- Salman Kirmani (ORCID: https://orcid.org/0000-0003-2039-5233)
- Sadaf Altaf
- Asim Fakhruddin Belgaumi
- Zehra Fadoo
- Fizza Akbar
Publication Details
- Journal
- Expert Review of Hematology
- Published
- 2025-12-25
- DOI
- https://doi.org/10.1080/17474086.2025.2610748
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00