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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

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Title: Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Authors: Beunders G; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., de Munnik SA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Van der Aa N; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Ceulemans B; Department of Neurology-Paediatric Neurology, University Hospital Antwerp, Antwerp, Belgium., Voorhoeve E; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Groffen AJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Nillesen WM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Meijers-Heijboer EJ; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Frank Kooy R; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium., Yntema HG; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Sistermans EA; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jun; Vol. 23 (6), pp. 803-7. Date of Electronic Publication: 2014 Sep 10.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Beunders+G%22">Beunders G</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Munnik+SA%22">de Munnik SA</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Van+der+Aa+N%22">Van der Aa N</searchLink>; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Ceulemans+B%22">Ceulemans B</searchLink>; Department of Neurology-Paediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Voorhoeve+E%22">Voorhoeve E</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Groffen+AJ%22">Groffen AJ</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Nillesen+WM%22">Nillesen WM</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Meijers-Heijboer+EJ%22">Meijers-Heijboer EJ</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Frank+Kooy+R%22">Frank Kooy R</searchLink>; Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Yntema+HG%22">Yntema HG</searchLink>; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Sistermans+EA%22">Sistermans EA</searchLink>; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2015 Jun; Vol. 23 (6), pp. 803-7. <i>Date of Electronic Publication: </i>2014 Sep 10.
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