Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al. to be overlapping with Bohring–Opitz syndrome –...

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Argitaratua izan da:Eur J Hum Genet
Egile Nagusiak: Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B, Wieland, Thomas, Engels, Hartmut, Prokisch, Holger, Strom, Tim M, Lüdecke, Hermann-Josef, Wieczorek, Dagmar
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2017
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5255962/
https://ncbi.nlm.nih.gov/pubmed/27901041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.165
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