Rare copy number variants identified in prune belly syndrome
NS Boghossian, RJ Sicko, A Giannakou… - European journal of …, 2018 - Elsevier
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital
disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary
tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but
genetic factors are implicated given its recurrence in families. We examined cases of PBS to
identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4
females) with PBS identified from all live births in New York State (1998–2005) were …
disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary
tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but
genetic factors are implicated given its recurrence in families. We examined cases of PBS to
identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4
females) with PBS identified from all live births in New York State (1998–2005) were …