Article

Splicing Variant of WDR37 in a Case of Neurooculocardiogenitourinary Syndrome

2023-07-17

Abstract excerpt

<h4>Background: </h4> 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 neurooculocardiogenitourinary syndrome (NOCGUS) in...

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Literature Corpus work: 6f53b202-1527-5ac0-8d86-ffed64684c60
DOI: 10.21203/rs.3.rs-3034665/v1

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