Fig. 2

Overview of the current patient cohort. A Pie chart showing the frequency of PROMIS tables provided by the 90 patients. B Pie chart showing the gender distribution. C Pyramid histograms showing the age distribution in the two genders. Solid curves represent fitted kernel density estimations. D Treatment strategies among the 86 patients with records. BP: bisphosphonate. E Self-reported socioeconomic situations of the patients’ families, stratified by the sources of medical expenses, among the 63 patients where such data were available. RMB is the Chinese currency. F Pie chart showing the distributions of affected genes among the 59 patients that underwent genetic screening on a panel of 24 genes for targeted sequencing. G Bar chart showing the distribution of Sillence subtypes among the different genotypes