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Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation

Phenotypic and biological characterization of rare monogenic disorders represents 1 of the most important avenues toward understanding the mechanisms of human disease. Among patients with SH3 and multiple ankyrin repeat domains 3 (SHANK3) mutations, a subset will manifest neurologic regression, psyc...

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Bibliographic Details
Published in:Pediatrics
Main Authors: Bey, Alexandra L., Gorman, Mark P., Gallentine, William, Kohlenberg, Teresa M., Frankovich, Jennifer, Jiang, Yong-hui, Van Haren, Keith
Format: Artigo
Language:Inglês
Published: 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802010/
https://ncbi.nlm.nih.gov/pubmed/32015180
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2019-1490
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