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Author

Juan Zhang

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Sep 2026

Clinical and genetic analysis of a family with 16p11.2 microduplication syndrome and variable multisystem manifestations.

This family provides a detailed clinical and genetic description of 16p11.2 microduplication carriers with prominent gastrointestinal motility and neuromuscular manifestations, thereby enriching the clinical characterization of this recurrent CNV and supporting substantial intrafamilial phenotypic heterogeneity.

Hai-Lun Huang, An-Kang Zhu, Zi-Yan Xu et al. · 0 citations

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