Author

Yan Jiang

3 papers indexed here

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Open access Oct 2026

The diagnostic journey of fibrodysplasia ossificans progressiva: evidence from a national cohort of 114 patients

A cross-sectional analysis of 114 patients with molecularly confirmed FOP enrolled in the National Rare Diseases Registry System of China provides a rationale for prospective evaluation of an early-recognition pathway emphasizing examination of the great toes, avoidance of invasive procedures when FOP is suspected, ACV...

L. Cui, Quan-Shi Ouyang, Jian Guo et al. · Frontiers in Endocrinology · 0 citations

Review Open access Oct 2026

Genotype and phenotypic spectrum of pycnodysostosis: report of a case harboring two novel CTSK variants and literature review

Pycnodysostosis is an extremely rare inherited skeletal dysplasia with incidence of about 1 to 1.7 per million neonates. We reported a patient with pycnodysostosis, who had typical craniofacial deformity, short stature and recurrent limb fracture history. Literature was comprehensively reviewed to summarize the p...

Rui-Han Zhang, Ling-Yang Meng, Xiao-Xiao Zhang et al. · Orphanet Journal of Rare Dis... · 0 citations

Open access Oct 2026

Impact of bisphosphonate drug holidays on bone mineral density and osteoporotic fracture risk: real-world evidence from a retrospective cohort study.

Bisphosphonate drug holidays can reduce rare adverse effects, but their skeletal impact is unclear. In this retrospective cohort study, ALN holiday caused modest BMD loss and BTMs rise without increased fracture risk; effects of ZOL holiday were minimal. This study suggests bisphosphonate drug holidays are safe for sel...

Shu-Quan Zhang, Zhi-Xiang Wang, Ruo-Tong Zhou et al. · Osteoporosis International · 0 citations