Article

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene<i>FTH1</i>Cause a Novel Pediatric Neuroferritinopathy

2023-01-31

Abstract excerpt

Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded by FTL and FTH1 , respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). Variants in FTH1 have not been previously associated with neurologic disease. We describe the clinical, neuroimaging, and neuropathology findings of five unrelate...

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Literature Corpus work: ba3880fb-6d82-5bc9-907b-390c5d2e24a0
DOI: 10.1101/2023.01.30.23285099

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