Article

Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia

2025-06-09

Abstract excerpt

Objective To raise awareness of a novel neuroinflammatory syndrome associated with TONSL DNA repair defects Methods Case review with neuroradiology, neuropathology, functional data and review of the literature. Results Tonsoku-like, DNA repair protein ( TONSL ) mutations have recently been described as the cause of SPONASTRIME dysplasia, a syndrome of skeletal dysplasia, disproportionate short stature and immuno...

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Literature Corpus work: 3193da3d-3c3f-5f6a-a2d1-ddd412303412
DOI: 10.12688/wellcomeopenres.23663.1

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