• Media type: E-Article
  • Title: De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
  • Contributor: Gordon, Christopher T; Xue, Shifeng; Yigit, Gökhan; Filali, Hicham; Chen, Kelan; Rosin, Nadine; Yoshiura, Koh-ichiro; Oufadem, Myriam; Beck, Tamara J; McGowan, Ruth; Magee, Alex C; Altmüller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D; Nürnberg, Peter; Meschede, Dieter; Mühlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S Faisal; [...]
  • imprint: Springer Science and Business Media LLC, 2017
  • Published in: Nature Genetics
  • Language: English
  • DOI: 10.1038/ng.3765
  • ISSN: 1061-4036; 1546-1718
  • Keywords: Genetics
  • Origination:
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