Article

Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders

2023-06-11

Abstract excerpt

Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism, and hair anomalies. PNPLA6 encodes Neuropathy target esterase (NTE), yet the role of NTE dysfunction on affected tissues in the large spectrum of associated disease remains unclear. We present a clinical meta-analysis of a novel cohort of 23 new patients a...

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Literature Corpus work: 94a89689-5d50-5af2-a8d8-5ca22e23754a
DOI: 10.1101/2023.06.09.544373

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