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
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
Oral findings and healthcare management in Shashi-Pena syndrome.
Alqaisi D et al.
Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, 2022
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