Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

Xiaomin Dong, Natalie B. Tan, Katherine B. Howell, Sabina Barresi, Jeremy L. Freeman, Davide Vecchio, Maria Piccione, Francesca Clementina Radio, Daniel G. Calame, Shan Zong, Stefanie Eggers, Ingrid E. Scheffer, Tiong Yang Tan, Nicole J. Van Bergen, Marco Tartaglia, John Christodoulou, Susan M. White