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Article

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Clinical genetics - 1 Aug 2020

Wright Georgia C, Brown Richard, Grayton Hannah, Livingston John H, Park Soo-Mi, Parker Alasdair P J, Patel Anjla, Simonic Ingrid, Thomas Adam G, Vadlamani Gayatri, Horvath Rita, Harijan Pooja D

Abstract excerpt

Variants in the FIG4 gene, which encodes a phosphatidylinositol-3,5-bisphosphatase lead to obstruction of endocytic trafficking, causing accumulation of enlarged vesicles in murine peripheral neurons and fibroblasts. Bi-allelic pathogenic variants in FIG4 are associated with neurological disorders including Charcot-Marie-Tooth disease type-4J (CMT4J) and Yunis-Varón syndrome (YVS). We present four probands from...

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Identifiers

PMID: 32385905
DOI: 10.1111/cge.13771

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.PMID 32385905Read ↗

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