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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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: 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
Jezik:Inglês
Izdano: Nature Publishing Group 2014
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Article
Online dostop: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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