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. 2023 Sep;104(3):384-386.
doi: 10.1111/cge.14347. Epub 2023 Apr 23.

Discovering the ANK2-related autism phenotype

Claire Guissart  1 , Anne Polge  1 , Nelly Durand  2 , Ania Miret  2 , Serge Lumbroso  1 , Christine Francannet  2 , Kevin Mouzat  1
Affiliations

Discovering the ANK2-related autism phenotype

Claire Guissart et al. Clin Genet. 2023 Sep.

Abstract

Interestingly, disease-causing mutations in the ANK2 gene have been identified in patients with autism since 2012, though with no full clinical description. In this Research Letter, for the first time, we describe the detailed characteristics of a patient with autism caused by a new mutation in this gene. Our report is a first step to better understanding ANK2-related autism and will contribute to facilitating its further diagnosis.

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