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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...
Autores principales: | Talluri, Sriharsha, Goedde, Michael A., Rosenberg, Eran, Canalichio, Katie L., Peppas, Dennis, White, Jeffrey T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
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 |
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