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 Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V et al.
American Journal of Human Genetics, 2016
Select a paper to view details