A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Maerzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. BatesMarc A. Levitt, Alberto Pena, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number310
Number of pages10
JournalFrontiers in pediatrics
Volume8
DOIs
Publication statusPublished - 23 Jun 2020

Keywords

  • anorectal malformations
  • duane-radial ray syndrome
  • esophageal atresia
  • genetics-first
  • molecular inversion probe
  • Opitz-G
  • BBB syndrome
  • townes-brocks syndrome
  • VATER/VACTERL ASSOCIATION
  • MOLECULAR-BASIS
  • COPY NUMBER
  • MALFORMATIONS
  • MUTATION
  • FGF8
  • EXPRESSION
  • NOTOCHORD
  • SPECTRUM
  • DEFECTS

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