Article

Complementary vertebrate <i>Wac</i> models exhibit phenotypes relevant to DeSanto-Shinawi Syndrome

2024-05-26

Abstract excerpt

Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments and neurobehavioral phenotypes including autism and seizures. Limited studies and resources are available to make meaningful headway into the underlying molecular mechanisms that result in these symptoms. One such example is DeSanto-Shinawi Syndrome (DESSH), a rare disorder caused by pathogenic variants in the...

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Literature Corpus work: 8be13572-de4b-524b-b627-cb536e853b4d
DOI: 10.1101/2024.05.26.595966

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