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Article

Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome.

Brain & development - 1 Mar 2024

Samejima Mai, Nakashima Mitsuko, Shibasaki Jun, Saitsu Hirotomo, Kato Mitsuhiro

Abstract excerpt

BACKGROUND: Neurooculocardiogenitourinary syndrome (NOCGUS), a multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac diseases, has been reported with missense variant of WD repeat-containing protein 37 (WDR37) in humans. This report aimed to identify the cause of NOCGUS in an affected patient. CASE PRESENTATION: We...

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PMID: 38044197
DOI: 10.1016/j.braindev.2023.11.007

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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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