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Article

Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.

Journal of human genetics - 1 Sept 2020

Miura Shiroh, Kosaka Kengo, Shimojo Tomofumi, Matsuura Eiji, Noda Kazuhito, Fujioka Ryuta, Mori Shin-Ichiro, Umehara Fujio, Iwaki Toru, Yamamoto Ken, Saitsu Hirotomo, Shibata Hiroki

Abstract excerpt

In 2008, we reported a clinically and genetically new type of autosomal dominant disorder of motor and sensory neuropathy with proximal dominancy in the lower extremities, urinary disturbance, and paroxysmal dry cough. To identify the nucleotide variant causative of this disease, we reanalyzed the linkage of the original Japanese pedigree including seven newly ascertained subjects with updated information. We...

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PMID: 32341455
DOI: 10.1038/s10038-020-0761-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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