Identification of a Novel <i>SHANK2</i> Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

Genetic defects in the <i>SHANK2</i> gene, encoding for synaptic scaffolding protein, are associated with a variety of neurodevelopmental conditions, including autism spectrum disorders and mild to moderate intellectual disability. Until now, limited patient clinical descriptions have be...

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Egile Nagusiak: Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI AG 2022-04-01
Saila:Genes
Gaiak:
<i>SHANK2</i>
neurodevelopmental disorder
language impairment
exome sequencing (ES)
Sarrera elektronikoa:https://www.mdpi.com/2073-4425/13/4/688
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