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

• Päätekijät: Sriharsha Talluri (Tekijä), Michael A. Goedde (Tekijä), Eran Rosenberg (Tekijä), Katie L. Canalichio (Tekijä), Dennis Peppas (Tekijä), Jeffrey T. White (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Frontiers Media S.A., 2021-09-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

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...