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Article

Epidemiology of achondroplasia: A population‐based study in Europe

11 Jul 2019

Abstract excerpt

Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991-2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis,...

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PMID: 31294928
DOI: 10.1002/ajmg.a.61289

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