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Khaled Shafeen

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Case report Open access Sep 2026

Rapidly Progressive Infantile Dilated Cardiomyopathy in Long–Olsen–Distelmaier Syndrome Associated with RRAGC NM_022157.4:c.343T>C, p.(Trp115Arg): A Case Report

Background: Infantile dilated cardiomyopathy (DCM) is uncommon but carries substantial mortality, particularly when accompanied by neurological, ocular, or metabolic abnormalities. Long–Olsen–Distelmaier syndrome is a rare mTORopathy caused by heterozygous gain-of-function variants in RRAGC and may include cortical mal...

M. S. Uddin, F. Alshammari, Amr Esmail et al. · 0 citations

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