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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