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Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients. Some...
Autores principales: | Nordenskjöld, Agneta, Arkani, Samara, Pettersson, Maria, Winberg, Johanna, Cao, Jia, Fossum, Magdalena, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Lundin, Johanna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10100507/ https://www.ncbi.nlm.nih.gov/pubmed/36349425 http://dx.doi.org/10.1002/ajmg.a.63031 |
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