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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case

Guang Ji1, Yuan Zhao2, Jian Zhang2

  • 1Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

BMC Neurology
|July 5, 2022
PubMed
Abstract

Keywords:
Eosinophilic intranuclear inclusionsFocal segmental glomerular sclerosis (FSGS)GGC repeat expansionNOTCH2NLCOculopharyngodistal myopathy (OPDM)

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