Article
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
American journal of medical genetics. Part A - 1 Mar 2017
Vilboux Thierry, Malicdan May Christine V, Roney Joseph C, Cullinane Andrew R, Stephen Joshi, Yildirimli Deniz, Bryant Joy, Fischer Roxanne, Vemulapalli Meghana, Mullikin James C, Steinbach Peter J, Gahl William A, Gunay-Aygun Meral
Abstract excerpt
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo;...
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