Article
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Birth defects research - 1 Jul 2024
Blue Elizabeth E, Moore Kristin J, North Kari E, Desrosiers Tania A, Carmichael Suzan L, White Janson J, Chong Jessica X, Bamshad Michael J, Jenkins Mary M, Almli Lynn M, Brody Lawrence C, Freedman Sharon F, Reefhuis Jennita, Romitti Paul A, Shaw Gary M, Werler Martha, Kay Denise M, Browne Marilyn L, Feldkamp Marcia L, Finnell Richard H, Nembhard Wendy N, Pangilinan Faith, Olshan Andrew F
Abstract excerpt
BACKGROUND: Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This...
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