Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome

In approximately 20% of individuals with Kagami-Ogata syndrome (KOS14, MIM 608149), characterized by a bell-shaped thorax with coat-hanger configuration of the ribs, joint contractures, abdominal wall defects and polyhydramnios during the pregnancy, the syndrome is caused by a maternal deletion of t...

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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: van der Werf, Ilse M, Buiting, Karin, Czeschik, Christina, Reyniers, Edwin, Vandeweyer, Geert, Vanhaesebrouck, Piet, Lüdecke, Hermann-Josef, Wieczorek, Dagmar, Horsthemke, Bernhard, Mortier, Geert, Leroy, Jules G, Kooy, R Frank
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2016
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117931/
https://ncbi.nlm.nih.gov/pubmed/27406249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.82
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