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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: Nature Publishing Group 2014
Fag:
Article
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker