Article

Behavioral phenotyping of an improved mouse model of Phelan-McDermid Syndrome with a complete deletion of the <i>Shank3</i> gene

2018-03-08

Abstract excerpt

Phelan-McDermid Syndrome (PMS) is a rare genetic disorder in which one copy of the SHANK3 gene is missing or mutated, leading to a global developmental delay, intellectual disability, and autism. Multiple intragenic promoters and alternatively spliced exons are responsible for the formation of numerous isoforms. Many genetically-modified mouse models of PMS have been generated but most disrupt only some of the is...

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Literature Corpus work: b6e2b2ee-7a7e-5afa-9699-0e8e52fbe293
DOI: 10.1101/278622

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