Ziegler M, Russell BE, Eberhardt K, Geisel G, D’Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2020 Dec 29;7(1):e544. doi: 10.1212/NXG.0000000000000544. PMID: 33553621; PMCID: PMC7862086.