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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)