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Author

Jie-Rong Chen

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Case report Open access Jul 2026

Case Report: A novel de novo heterozygous truncating mutation in MED12L identified in a Chinese autistic boy

Obvious clinical manifestations and dysmorphic features in this child with a truncating mutation in MED12L expand the phenotypic spectrum of MED12L-related cases and warrant further functional studies to elucidate the relationship between MED12L and ASD.

Zhi-Liu Wu, Chuanyong Xu, Jie-Rong Chen et al. · 0 citations

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