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Article

Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and review

31 Dec 2018

Abstract excerpt

Abstract TheWWOXgene has a WW domain containing oxidoreductase, which is located at the common fragile site FRA16D at chromosome 16q23.WWOXis a tumor suppressor gene that has been associated with several types of cancer such as hepatic, breast, lung, prostate, gastric, and ovarian. Recently WWOX has been implicated in epilepsy, where studies show homozygous loss-of-function mutation lead to early-infantile...

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Identifiers

PMID: 30746283
DOI: 10.1515/tnsci-2018-0029

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Novel homozygous mutation in the WWOX gene causes seizures and global developmental delay: Report and reviewPMID 30746283Read ↗

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Identification of compound heterozygous deletions in the WWOX gene caused WOREE syndrome by whole exome sequencingSemantic proximity Read ↗

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureSemantic proximity Read ↗

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The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.Semantic proximity Read ↗

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