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...

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Detalles Bibliográficos
Autores principales: Nordenskjöld, Agneta, Arkani, Samara, Pettersson, Maria, Winberg, Johanna, Cao, Jia, Fossum, Magdalena, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Lundin, Johanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Original Articles
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

Internet

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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