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Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome.
Talluri, Sriharsha; Goedde, Michael A; Rosenberg, Eran; Canalichio, Katie L; Peppas, Dennis; White, Jeffrey T.
Afiliación
  • Talluri S; Department of Urology, University of Louisville, Louisville, KY, United States.
  • Goedde MA; Department of Urology, University of Louisville, Louisville, KY, United States.
  • Rosenberg E; Department of Urology, University of Louisville, Louisville, KY, United States.
  • Canalichio KL; Department of Pediatric Urology, Norton Healthcare, Louisville, KY, United States.
  • Peppas D; Department of Urology, University of Louisville, Louisville, KY, United States.
  • White JT; Department of Pediatric Urology, Norton Healthcare, Louisville, KY, United States.
Front Pediatr ; 9: 729932, 2021.
Article en En | MEDLINE | ID: mdl-34631626
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 have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Pediatr Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Pediatr Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Suiza