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Epidemiology of achondroplasia: a population‐based study in Europe

Coi, Alessio; Santoro, Michele; Garne, Ester; Pierini, Anna; Addor, Marie‐Claude; Alessandri, Jean‐Luc; Bergman, Jorieke E.H.; Bianchi, Fabrizio

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, associa...

Date: 2019   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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