Review
Open access
Oct 2026
Fatal Neonatal mTORopathy: Expanding the Phenotypic Spectrum of RRAGC-Associated Long-Olsen-Distelmaier Syndrome.
Dilated cardiomyopathy (DCM) is a severe cardiac condition characterized by the enlargement and impaired contraction of the heart's ventricles. Pediatric cases often present unique challenges due to their rarity and the complexity of underlying genetic causes. This study presents the first documented case of a Colombia...
J. Lores, Valentina Botia-Arciniegas, Diana Ramírez-Montaño et al.
· Clinical Genetics · 0 citations