Identification of a novel shank2 pathogenic variant in a patient with a neurodevelopmental disorder

HIGHLIGHTS

• who: Gabriella Doddato and colleagues from the Medical Genetics, Department of Medical Biotechnologies, University of Siena, Siena, Italy have published the article: Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder, in the Journal: Genes 2022, 13, 688. of 10/02/2022
• what: The authors report the identification of one rare patient with a SHANK2 pathogenic variant, c.334C>T, showing a neurodevelopmental disorder.
• how: The Genes 2022 13 688 Sanger sequencing results were analyzed with Sequencher software V.4.9 (Gene Codes Ann Arbor MI USA).
 



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