To describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized. Until recently, the diagnosis of skeletal ...
Bent bone dysplasia (BBD) is a perinatal-lethal skeletal disorder caused by pathogenic FGFR2 mutations that disrupt bone formation, leading to bent long bones, osteopenia, and craniosynostosis. Bent ...
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