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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,… Click to show full 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.
Keywords:
autism;
ank2 related;
related autism;
discovering ank2;
autism phenotype
Journal Title: Clinical genetics
Year Published: 2023
Link to full text (if available)
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Journal Title: Clinical genetics
Year Published: 2023
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!