Associated Papers
Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.
Minotti C et al.
Molecular Syndromology, 2025
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2023
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.
Yuan M et al.
Translational Pediatrics, 2023
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
Unknown Author
American Journal of Human Genetics, 2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V et al.
American Journal of Human Genetics, 2017
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V et al.
American Journal of Human Genetics, 2016
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