Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles...

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Detalles Bibliográficos
Autores principales: Talluri, Sriharsha, Goedde, Michael A., Rosenberg, Eran, Canalichio, Katie L., Peppas, Dennis, White, Jeffrey T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496350/
https://www.ncbi.nlm.nih.gov/pubmed/34631626
http://dx.doi.org/10.3389/fped.2021.729932

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496350/
https://www.ncbi.nlm.nih.gov/pubmed/34631626
http://dx.doi.org/10.3389/fped.2021.729932

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