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...

詳細記述

保存先:
書誌詳細
出版年:Pediatr Rep
主要な著者: Pelizzo, Gloria, Chiricosta, Luigi, Mazzon, Emanuela, Zuccotti, Gian Vincenzo, Avanzini, Maria Antonietta, Croce, Stefania, Lima, Mario, Bramanti, Placido, Calcaterra, Valeria
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2021
主題:
Case Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7838983/
https://ncbi.nlm.nih.gov/pubmed/33466296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/pediatric13010006
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