Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients-Reference-Cited by-同舟云学术

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Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

Published:2015-09 Issue:9 Volume:58 Page:455-465
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Beleza-Meireles Ana^ORCID,Hart Rachel,Clayton-Smith Jill,Oliveira Renata,Reis Cláudia Falcão,Venâncio Margarida,Ramos Fabiana,Sá Joaquim,Ramos Lina,Cunha Elizabete,Pires Luís Miguel,Carreira Isabel Marques,Scholey Rachel,Wright Ronnie,Urquhart Jill E.,Briggs Tracy A.,Kerr Bronwyn,Kingston Helen,Metcalfe Kay,Donnai Dian,Newman William G.,Saraiva Jorge Manuel,Tassabehji May

Funder

The Newlife Foundation

The Rosetrees Trust

The Manchester NIHR Biomedical Research Centre

Manchester Academic Health Sciences Centre

Healing Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference55 articles.

1. 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay;Abdelmoity;Eur. J. Med. Genet.,2011

2. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly;Ala-Mello;Am. J. Med. Genet. A,2008

3. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication;Ballesta-Martínez;Am. J. Med. Genet. A,2013

4. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe;Barisic;Eur. J. Hum. Genet.,2014

5. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update;Beleza-Meireles;J. Med. Genet.,2014

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