Biallelic loss-of-function NRROS variants impairing active TGF-ss 1 delivery cause a severe infantile onset neurodegenerative condition with intracranial calcification
X Dong, NB Tan, KB Howell, S Barresi, L Freeman, D Vecchio, M Piccione, F Clementina Radio, D Calame, S Zong, S Eggers, IE Scheffer, TY Tan, NJ Van Bergen, M Tartaglia, J Christodoulou, SM White
EUROPEAN JOURNAL OF HUMAN GENETICS | SPRINGERNATURE | Published : 2020
Research at Murdoch Children's Research Institute is supported by the Victorian Government's Operational Infrastructure Support Program and the Harbig Foundation. NBT acknowledges the Australian NHMRC CRE in Neurocognitive Disorders for their support. KBH is supported by funding from the Australian NHMRC. MT acknowledges the Italian Ministry of Health (Ricerca Corrente 2019) and Fondazione Bambino Gesu (Vite Coraggiose).