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

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

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...

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Main Authors: 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 Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-06-01
Series:Frontiers in Pediatrics
Subjects:
anorectal malformations
duane-radial ray syndrome
esophageal atresia
genetics-first
molecular inversion probe
Opitz-G/BBB syndrome
Online Access:https://www.frontiersin.org/article/10.3389/fped.2020.00310/full

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https://www.frontiersin.org/article/10.3389/fped.2020.00310/full

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