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Article

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder.

European journal of medical genetics - 1 Dec 2020

Caumes Roseline, Smol Thomas, Thuillier Caroline, Balerdi Marie, Lestienne-Roche Catherine, Manouvrier-Hanu Sylvie, Ghoumid Jamal

Abstract excerpt

SHANK2 code a scaffolding protein located at the postsynaptic membrane of glutamatergic neurons. To date, only nine patients were reported with a SHANK2-variation or microdeletion. Molecular anomalies were identified through screening of large cohorts of patients, but only poor patient clinical descriptions were available. However, this information is crucial for patient care. Here, we describe two additional...

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Autism Spectrum Disorder
Child
Developmental Disabilities
Intellectual Disability
Language Development

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Nerve Tissue Proteins

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PMID: 32987185
DOI: 10.1016/j.ejmg.2020.104072

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