Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q1...

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Main Authors: Amouroux, Cyril, Vincent, Marie, Blanchet, Patricia, Puechberty, Jacques, Schneider, Anouck, Chaze, Anne Marie, Girard, Manon, Tournaire, Magali, Jorgensen, Christian, Morin, Denis, Sarda, Pierre, Lefort, Geneviève, Geneviève, David
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2012
主題:
Short Report
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3330221/
https://ncbi.nlm.nih.gov/pubmed/22258531
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.243
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