Article

Missense variants in <i>ANKRD11</i> cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

2021-12-22

Abstract excerpt

<h4>Purpose</h4> Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized the clinical, molecular and functional spectra of ANKRD11 missense variants. <h4>Methods</h4> We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG...

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Literature Corpus work: 96c130d8-651b-5c66-8d68-4eaa4c49db07
DOI: 10.1101/2021.12.20.21267971

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