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

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 and Wieczorek, Dagmar (2017) Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. European Journal of Human Genetics 25 (2), pp. 183-191.

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Other URL: http://doi.org/10.1038/ejhg.2016.165


Abstract

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 - were developmental delay, severe feeding difficulties, failure to thrive and neurological ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1038/ejhg.2016.165DOI
Keywords:BOHRING-OPITZ SYNDROME; NOVO FRAMESHIFT MUTATION; INTELLECTUAL DISABILITY; GENE; DISORDERS; PHENOTYPE; FAMILY;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38752
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