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Discovering the ANK2 ‐related autism phenotype
Journal article   Open access   Peer reviewed

Discovering the ANK2 ‐related autism phenotype

Claire Guissart, Anne Polge, Nelly Durand, Ania Miret, Serge Lumbroso, Christine Francannet and Kevin Mouzat
Clinical Genetics, Vol.104(3), pp.384-386
23/04/2023
PMID: 37088467

Abstract

Humans Autistic Disorder Mutation Phenotype Autism Spectrum Disorder Ankyrins
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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https://doi.org/10.1111/cge.14347View
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