Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

X-linked retinal dystrophies (XLRD) are listed among the most severe RD owing to their early onset, leading to significant visual loss before the age of 30. One-third of XLRD are accounted for by RP2 mutations at the Xp11.23 locus. Deletions of ca. 1.2 Mb in the Xp11.3-p11.23 region have been previo...

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Main Authors: Delphin, Nathalie, Hanein, Sylvain, Taie, Lucas Fares, Zanlonghi, Xavier, Bonneau, Dominique, Moisan, Jean-Paul, Boyle, Christine, Nitschke, Patrick, Pruvost, Solenn, Bonnefont, Jean-Paul, Munnich, Arnold, Roche, Olivier, Kaplan, Josseline, Rozet, Jean-Michel
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/PMC3283176/
https://ncbi.nlm.nih.gov/pubmed/22126752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.217
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