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

• Main Authors: Romy van de Putte (Author), Gabriel C. Dworschak (Author), Erwin Brosens (Author), Heiko M. Reutter (Author), Carlo L. M. Marcelis (Author), Rocio Acuna-Hidalgo (Author), Nehir E. Kurtas (Author), Marloes Steehouwer (Author), Sally L. Dunwoodie (Author), Eberhard Schmiedeke (Author), Stefanie Märzheuser (Author), Nicole Schwarzer (Author), Alice S. Brooks (Author), Annelies de Klein (Author), Cornelius E. J. Sloots (Author), Dick Tibboel (Author), Giulia Brisighelli (Author), Anna Morandi (Author), Maria F. Bedeschi (Author), Michael D. Bates (Author), Marc A. Levitt (Author), Alberto Peña (Author), Ivo de Blaauw (Author), Nel Roeleveld (Author), Han G. Brunner (Author), Iris A. L. M. van Rooij (Author), Alexander Hoischen (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically...