Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. [electronic resource]
Producer: 20200511Description: 559-569 p. digitalISSN:- 1537-6605
- Alleles
- Brain Diseases -- genetics
- Calcinosis -- genetics
- Female
- Genetic Variation -- genetics
- HEK293 Cells
- Humans
- Infant
- Latent TGF-beta Binding Proteins -- genetics
- Macrophages -- pathology
- Male
- Microglia -- pathology
- Neurodegenerative Diseases -- genetics
- Transforming Growth Factor beta1 -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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