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

Saved in:
Bibliographic Details
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
Description
ISSN:1476-5438
DOI:10.1038/ejhg.2014.173