Article
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
American journal of human genetics - 1 Nov 2008
Gorden Nicholas T, Arts Heleen H, Parisi Melissa A, Coene Karlien L M, Letteboer Stef J F, van Beersum Sylvia E C, Mans Dorus A, Hikida Abigail, Eckert Melissa, Knutzen Dana, Alswaid Abdulrahman F, Ozyurek Hamit, Dibooglu Sel, Otto Edgar A, Liu Yangfan, Davis Erica E, Hutter Carolyn M, Bammler Theo K, Farin Frederico M, Dorschner Michael, Topçu Meral, Zackai Elaine H, Rosenthal Phillip, Owens Kelly N, Katsanis Nicholas, Vincent John B, Hildebrandt Friedhelm, Rubel Edwin W, Raible David W, Knoers Nine V A M, Chance Phillip F, Roepman Ronald, Moens Cecilia B, Glass Ian A, Doherty Dan
Abstract excerpt
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis. JSRD are included in the rapidly expanding group of disorders called ciliopathies, because all six...
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