Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest p...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Barisic, Ingeborg, Odak, Ljubica, Loane, Maria, Garne, Ester, Wellesley, Diana, Calzolari, Elisa, Dolk, Helen, Addor, Marie-Claude, Arriola, Larraitz, Bergman, Jorieke, Bianca, Sebastiano, Doray, Berenice, Khoshnood, Babak, Klungsoyr, Kari, McDonnell, Bob, Pierini, Anna, Rankin, Judith, Rissmann, Anke, Rounding, Catherine, Queisser-Luft, Annette, Scarano, Gioacchino, Tucker, David
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4350601/
https://ncbi.nlm.nih.gov/pubmed/24398798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.287
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