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Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

BACKGROUND: Gastrointestinal atresias and urological defects are main causes of pediatric surgery in infants. As copy number variants (CNVs) have been shown to be involved in the development of congenital malformations, the aim of our study was to investigate the presence of CNVs in patients with ga...

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Detalles Bibliográficos
Autores principales: Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005659/
https://www.ncbi.nlm.nih.gov/pubmed/31837127
http://dx.doi.org/10.1002/mgg3.1084