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Extended data for Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME dysplasia
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posted on 2025-03-25, 11:20
authored by
Sophie Hambleton
Sophie Hambleton
,
rob forsyth
,
Grant Stewart
<p dir="ltr">The contained data supports our publication on TONSL-related SPONASTRIME Dysplasia and its association with a novel neuroinflammatory syndrome.</p>
Funding
The troubled immune system - molecular origins of immune dysregulation
Wellcome Trust
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Investigating the pathogenic impact of mutations in TONSL as the genetic cause of a novel skeletal disorder in children.
Great Ormond Street Hospital Children's Charity
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Categories
Central nervous system
Immunogenetics (incl. genetic immunology)
Neurology and neuromuscular diseases
Humoural immunology and immunochemistry
Keywords
TONSL
SPONASTRIME dysplasia
spondyloepimetaphyseal dysplasia
neuroinflammation
Hypogammaglobulinaemia
Neutropenia
Licence
CC BY 4.0
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