Complimentary vertebrate

Document Type

Article

Publication Date

11-24-2024

Publication Title

bioRxiv

Abstract

Monogenic syndromes are associated with neurodevelopmental changes that result in cognitive impairments, neurobehavioral phenotypes including autism and attention deficit hyperactivity disorder (ADHD), 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

DOI

10.1101/2024.05.26.595966

ISSN

2692-8205

PubMed ID

38826421

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