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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Detalhes bibliográficos
Publicado no:Pediatr Rep
Main Authors: Pelizzo, Gloria, Chiricosta, Luigi, Mazzon, Emanuela, Zuccotti, Gian Vincenzo, Avanzini, Maria Antonietta, Croce, Stefania, Lima, Mario, Bramanti, Placido, Calcaterra, Valeria
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Case Report
Acesso em linha: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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