Epidemiology of achondroplasia: a population-based study in Europe

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 twe...

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Váldodahkkit: Coi, A, Santoro, M, Garne, E, Pierini, A, Addor, M, Alessandri, J, Bergman, J, Bianchi, F, Boban, L, Braz, P, Cavero-Carbonell, C, Gatt, M, Haeusler, M, Klungsøyr, K, Kurinczuk, J, Lanzoni, M, Lelong, N, Luyt, K, Mokoroa, O, Mullaney, C, Nelen, V, Neville, A, O'Mahony, M, Perthus, I, Rankin, J, Rissmann, A, Rouget, F, Schaub, B, Tucker, D, Wellesley, D, Wisniewska, K, Zymak-Zakutnia, N, Barišić, I
Materiálatiipa: Journal article
Giella:English
Almmustuhtton: Wiley 2019