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Siyuan Zhang

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Open access Jul 2026

Identification and growth features of developmental delay with macrocephaly caused by a novel TRIO variant affecting the second SH3 domain.

The findings broaden the variant landscape of TRIO, establish a correlation between macrocephaly and TRIO variants within the second SH3 domain, provide the first detailed growth chart for a patient with TRIO-associated macrocephaly, and deepen the understanding of developmental impairments attributed to TRIO variants.

Siyuan Zhang, Jie-Yuan Jin, Lei Zeng et al. · 0 citations

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