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G. Stasi

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Open access Oct 2026

B-52: Comorbidity of Shashi-Pena Syndrome and Autism Spectrum Disorder: A Case Report

Objective: Shashi-Pena Syndrome (SPS) is a rare neurodevelopmental condition caused by a heterozygous mutation of the ASXL2 gene on chromosome 2p23. This condition is characterized by impaired intellectual development, facial dysmorphism, hypotonia, macrocephaly, and cerebral atrophy. Presently, only about 50-60 indi...

Maeve Griffin, Nadia Turki, G. Stasi et al. · 0 citations

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