Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention

Discovering Genotype Variants in an Infant with VACTERL through Clinical Exome Sequencing: A Support for Personalized Risk Assessment and Disease Prevention

Congenital anomalies may have an increased risk of noncommunicable diseases (NCDs) We performed a clinical exome analysis in an infant affected by “Vertebral, Anorectal, Cardiac, Tracheoesophageal, Genitourinary, and Limb” (VACTERL) malformation association to identify potential biomarkers that may...

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Bibliographic Details
Main Authors: Gloria Pelizzo, Luigi Chiricosta, Emanuela Mazzon, Gian Vincenzo Zuccotti, Maria Antonietta Avanzini, Stefania Croce, Mario Lima, Placido Bramanti, Valeria Calcaterra
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Pediatric Reports
Subjects:
VACTERL
exome sequencing
infant
healthcare
personalized
prevention
Online Access:https://www.mdpi.com/2036-7503/13/1/6

Internet

https://www.mdpi.com/2036-7503/13/1/6

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