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Open access Sep 2026

Monoallelic SH2B1 Variants in Neurodevelopmental Disorders: Phenotypic Expansion and Functional Characterization of Rare Variants

SH2B1 encodes an adaptor protein involved in metabolic regulation and body‐weight control. Although SH2B1 haploinsufficiency is a recognized contributor to obesity in 16p11.2 deletion syndrome, the relationship between rare monoallelic SH2B1 variants and neurodevelopmental disorders (NDDs) remains poorly characterized.

Xin Xu, Ge-Ge Yuan, Bi-Xia Zheng et al. · 0 citations

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