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

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

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Cell Press, American Journal of Human Genetics, 4(106), p. 559-569, 2020

DOI: 10.1016/j.ajhg.2020.02.014

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

Journal article published in 2020 by Xiaomin Dong, Natalie B. Tan, Katherine B. Howell, Sabina Barresi, Jeremy L. Freeman, Davide Vecchio, Maria Piccione

, Francesca Clementina Radio, Daniel Calame, Shan Zong, Stefanie Eggers, Ingrid E. Scheffer, Tiong Y. Tan, Nicole J. Van Bergen, Marco Tartaglia and other authors.

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