Article
Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
American journal of medical genetics. Part A - 1 Oct 2021
Pitsava Georgia, Feldkamp Marcia L, Pankratz Nathan, Lane John, Kay Denise M, Conway Kristin M, Shaw Gary M, Reefhuis Jennita, Jenkins Mary M, Almli Lynn M, Olshan Andrew F, Pangilinan Faith, Brody Lawrence C, Sicko Robert J, Hobbs Charlotte A, Bamshad Mike, McGoldrick Daniel, Nickerson Deborah A, Finnell Richard H, Mullikin James, Romitti Paul A, Mills James L
Abstract excerpt
Bladder exstrophy (BE) is a rare, lower ventral midline defect with the bladder and part of the urethra exposed. The etiology of BE is unknown but thought to be influenced by genetic variation with more recent studies suggesting a role for rare variants. As such, we conducted paired-end exome sequencing in 26 child/mother/father trios. Three children had rare (allele frequency ≤ 0.0001 in several public...
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