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Author

M. Alhamdoosh

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Open access Sep 2026

Novel juxtamembrane FLT3 in-frame insertion in a child with refractory AML: a case report of durable remission following allogeneic HSCT and FLT3 inhibitor therapy

FLT3 gene mutations, particularly internal tandem duplications ( FLT3 -ITD), are present in approximately 25%–30% of patients with acute myeloid leukemia (AML) and are important drivers of leukemogenesis; less frequently, FLT3 mutations occur as tyrosine kinase domain (TKD) variants. Non-canonical variants,...

A. Peer-Zada, Mohammed Al-Rimawi, Farah Malaeb et al. · 0 citations
Case report Open access Aug 2026

A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization

The molecular and functional spectrum of SLC25A4-associated disease is expanded and may inform clinical practice, including genetic interventions such as preimplantation genetic diagnosis, premarital genetic screening, targeted genetic counseling, and cascade testing of at-risk family members.

Mazhor Aldosary, Hanan Alqudairy, Nourah Alshalan et al. · 0 citations

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