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Table 1 Estimates of birth incidence for RCDP and carriers per 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)
Births 95% confidence range Carriers (in thousands) Births 95% confidence range Carriers (in thousands)
PEX7 11.8 (9.3–14.6) 1130 14.2 (11.4–17.4) 1395
GNPAT 5.0 (3.7–6.4) 732 7.4 (5.7–9.4) 1006
AGPS 0.3 (0.1–0.4) 168 0.5 (0.3–0.8) 269
FAR1 0.6 (0.3–0.9) 246 0.1 (0.0–0.2) 126
PEX5 (PTS2 domain) 0.3 (0.2–0.5) 189 0.4 (0.2–0.6) 228
Total 18 (14–23) 2465 23 (18–28) 3024