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Author

Xiao Qian

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Open access Sep 2026

Identification of a novel homozygous FRRS1L variant in a Chinese girl with development delay and epilepsy: a case report

This study expands the genetic and phenotypic spectrums of DEE37, provides novel evidence supporting the correlation between FRRS1L variants and DEE37, and underscores the necessity for dynamic EEG monitoring and proactive management in high-risk patients with refractory seizures.

Liang Liu, Xi-Xiao Song, Bei Li et al. · 0 citations
Case report Aug 2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia

SF3B2’s role as a loss-of-function disease gene is reinforced and the importance of variant-specific molecular characterization in understanding CFM is highlighted, as well as the importance of variant-specific molecular characterization in understanding functional consequences.

Dan Xia, Xiaofang Peng, Zi-Hao Deng et al. · 0 citations

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