Author

Xiu-Li Zhao

2 papers indexed here

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Open access Oct 2026

Clinical and genetic features, surgical management, and longitudinal follow-up in two children with progressive osseous heteroplasia

Progressive osseous heteroplasia (POH) is an ultrarare disorder characterized by heterotopic ossification that progresses from the skin and subcutaneous tissues into deeper connective tissues. Most affected individuals harbor heterozygous inactivating variants in GNAS , whereas postzygotic mosaic variants have...

Yue-Han Yin, Bin Zhao, Li-Ying Sun et al. · Frontiers in Genetics · 0 citations

Open access Jul 2026

Novel variants of TP63 identified in Chinese families with split-hand/foot malformation

Three TP63 gene variants were found in the families with SHFM, which expanded the variant spectrum of TP63, providing further evidence for their heterogeneous role in limb and non-limb malformations but also broaden the genetic spectrum of associated disorders.

Xu-Yu Gu, Siyuan Tao, Xiao-Dong Wang et al. · Frontiers in Genetics · 0 citations