Author

Jiao Li

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Open access Aug 2026

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience

Skeletal dysplasia (SD) is a clinically and genetically heterogeneous group of bone and cartilage disorders. Given the typically heterogeneous and nonspecific clinical manifestations associated with these conditions, molecular testing is essential to achieve a definitive diagnosis. To elucidate the clinical and molecul...

Sheng Yi, Qi Yang, Lin-Lin Wang et al. · Orphanet Journal of Rare Dis... · 0 citations

Review Open access Aug 2026

NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features

The findings expand the genotypic and phenotypic spectrum of DEE96, demonstrating that DEE96 manifests as a multisystem disorder with prenatal onset, and supports considering NSF variants in the differential diagnosis of complex fetal syndromes with neurological and hematological abnormalities.

Qi Yang, Zai-Long Qin, Jiao Li et al. · Frontiers in Genetics · 0 citations