- Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family
Xianda Wei et al, 2022, Molecular Genetics & Genomic Medicine CrossRef - Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy
Ying Lin et al, 2017, International Journal of Molecular Medicine CrossRef - Novel chromosomal microduplications associated with dolichocephaly craniosynostosis
Dongyi Yu et al, 2017, Medicine CrossRef - Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy
Ying Lin et al, 2017, Molecular Medicine Reports CrossRef - Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment
Xinhua Huang et al, 2018, International Journal of Molecular Medicine CrossRef - Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome
Huijun Shi et al, 2021, Medicine CrossRef