Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

Recently, large-scale benign copy-number variations (CNVs)—encompassing over 12% of the genome and containing genes considered to be dosage tolerant for human development—were uncovered in the human population. Here we present a family with a novel autosomal-dominantly inherited syndrome characteriz...

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Main Authors: Balikova, Irina, Martens, Kevin, Melotte, Cindy, Amyere, Mustapha, Van Vooren, Steven, Moreau, Yves, Vetrie, David, Fiegler, Heike, Carter, Nigel P., Liehr, Thomas, Vikkula, Miikka, Matthijs, Gert, Fryns, Jean-Pierre, Casteels, Ingele, Devriendt, Koen, Vermeesch, Joris Robert
Format: Artigo
Language:Inglês
Published: Elsevier 2008
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2253954/
https://ncbi.nlm.nih.gov/pubmed/18179897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.08.001
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