Dong, Xiaomin <br/><br/>
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.  [electronic resource] 

 -  American journal of human genetics  04 2020 
 - 559-569 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2020.02.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Brain Diseases--genetics<br/>Calcinosis--genetics<br/>Female<br/>Genetic Variation--genetics<br/>HEK293 Cells<br/>Humans<br/>Infant<br/>Latent TGF-beta Binding Proteins--genetics<br/>Macrophages--pathology<br/>Male<br/>Microglia--pathology<br/>Neurodegenerative Diseases--genetics<br/>Transforming Growth Factor beta1--genetics