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In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome

1 Jan 2011

Abstract excerpt

Using high-resolution molecular karyotyping with SNP arrays to identify candidate genes for etiologically unexplained intellectual disability, we identified a 32-kb de novo in-frame deletion of the C-terminal helicase domain of the SMARCA2 gene in a patient with severe intellectual disability, epilepsy, sparse hair, prominent joints, and distinct facial anomalies. Sequencing of the gene in patients with a similar...

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PMID: 22822383
DOI: 10.1159/000337323

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In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser SyndromePMID 22822383Read ↗

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