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

• 主要な著者: Gloria Pelizzo (著者), Luigi Chiricosta (著者), Emanuela Mazzon (著者), Gian Vincenzo Zuccotti (著者), Maria Antonietta Avanzini (著者), Stefania Croce (著者), Mario Lima (著者), Placido Bramanti (著者), Valeria Calcaterra (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2021-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...