Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjogren syndrome: Case report and literature review.
Bayram N, Kaçar Bayram A, Daimagüler HS, Dafsari HS, Bamborschke D, Uyanik G, Erdogan M, Özsaygılı C, Pangal E, Yuvaci İ, Doğanay S, Gümüş H, Per H, Jungbluth H, Çırak S.
Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.
Potenza F, Cufaro MC, Di Biase L, Panella V, Di Campli A, Ruggieri AG, Dufrusine B, Restelli E, Pietrangelo L, Protasi F, Pieragostino D, De Laurenzi V, Federici L, Chiesa R, Sallese M.
Int J Mol Sci. 2021 Nov 18;22(22):12449. doi: 10.3390/ijms222212449.