Author

Ting Yu

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Open access Aug 2026

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes

The discovery of variants in PTEN, SRCAP, PQBP1, and NOG identifies novel candidate genes and uncovers potential disease mechanisms in craniosynostosis.

Yu-Feng Huang, Lingyue Huang, Li-Lin Hu et al. · Frontiers in Genetics · 0 citations