Article

Dominant-negative mutations in <i>CBX1</i> cause a neurodevelopmental disorder

2020-09-30

Abstract excerpt

<h4>Purpose</h4> This study aimed to establish variants in CBX1 , encoding heterochromatin protein 1β (HP1β), as a cause of a novel syndromic neurodevelopmental disorder. <h4>Methods</h4> Patients with CBX1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. To investigate the pathogenicity of identi...

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Literature Corpus work: d8496790-9cf0-54dc-9242-85a4d31bdc90
DOI: 10.1101/2020.09.29.319228

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