Dong X, et al. Biallelic loss-of-function NRROS variants impairing active TGF-ß1 delivery cause a severe infantile onset neurodegenerative condition with intracranial calcification. Amer J Hum Genet. 2020;106(4):559-569. PMID: 32197075.
Smith C, et al. Biallelic mutations in NRROS cause an early onset lethal microgliopathy. Acta Neuropathol. 2020;139(5):947-951. PMID: 32100099.