Article
The cell adhesion gene PVRL3 is associated with congenital ocular defects.
Human genetics - 1 Feb 2012
Lachke Salil A, Higgins Anne W, Inagaki Maiko, Saadi Irfan, Xi Qiongchao, Long Michelle, Quade Bradley J, Talkowski Michael E, Gusella James F, Fujimoto Atsuko, Robinson Michael L, Yang Ying, Duong Quynh T, Shapira Irit, Motro Benny, Miyoshi Jun, Takai Yoshimi, Morton Cynthia C, Maas Richard L
Abstract excerpt
We describe a male patient (patient DGAP113) with a balanced translocation, 46,XY,t(1;3)(q31.3;q13.13), severe bilateral congenital cataracts, CNS abnormalities and mild developmental delay. Fluorescence in situ hybridization (FISH) and suppression PCR demonstrated that the chromosome 3 breakpoint lies ~515 kb upstream of the PVRL3 gene, while the chromosome 1 breakpoint lies ~50 kb upstream of the NEK7 gene....
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