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Table 2 Current RCDP disease prevalence estimated by gene and population

From: Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Gene US EU5 (UK, Germany, France, Italy and Spain)
Estimated number of patients 95% confidence range Estimated number of patients 95% confidence range
PEX7 190 (150–235) 240 (192–293)
GNPAT 80 (59–104) 125 (96–158)
AGPS 4 (2–7) 9 (5–14)
FAR1 9 (5–14) 2 (1–4)
PEX5 (PTS2 domain) 5 (3–9) 6 (3–11)
Total 288 (219–368) 382 (297–479)