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
Prepubertal onset of type 2 diabetes in Shashi-Pena syndrome due to ASXL2 mutation.
Murphy SA et al.
American Journal of Medical Genetics. Part A, 2022
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