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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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Winberg, Johanna, Gustavsson, Peter, Sahlin, Ellika, Larsson, Magnus, Ehrén, Henrik, Fossum, Magdalena, Wester, Tomas, Nordgren, Ann, Nordenskjöld, Agneta
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005659/
https://ncbi.nlm.nih.gov/pubmed/31837127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1084
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