Contribution of Mendelian disorders in a population-based pediatric neurodegeneration cohort
Rose Guo, Frank D. Mentch, Dong Li, Erin Will, Rebecca C. Ahrens‐Nicklas, Elizabeth J. K. Bhoj
The paper evaluates Mendelian causes of pediatric neurodegenerative disorders in a cohort of 69 patients, finding 42 genetic diagnoses and 32 unique disorders.
The Journal of Pediatrics · Sep 1, 2022Peer-reviewedGenetic & Genomic Medicine