Recognizing the Evolution of Clinical Syndrome Spectrum Progression in Individuals with Single Large-Scale mitochondrial DNA deletion syndromes (SLSMDS)
Rebecca D. Ganetzky, Katelynn D. Stanley, Laura E. MacMullen, Ibrahim George‐Sankoh, Jing Wang, Amy C. Goldstein, Rui Xiao, Marni J. Falk
The paper characterizes the clinical progression of SLSMDS by analyzing electronic health records and identifies key genetic and clinical features associated with disease evolution.
Genetics in Medicine · Feb 19, 2025Peer-reviewedGenetic & Genomic Medicine