Article
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Human molecular genetics - 15 Jun 2013
Drévillon Loïc, Megarbane André, Demeer Bénédicte, Matar Corine, Benit Paule, Briand-Suleau Audrey, Bodereau Virginie, Ghoumid Jamal, Nasser Mayssa, Decrouy Xavier, Doco-Fenzy Martine, Rustin Pierre, Gaillard Dominique, Goossens Michel, Giurgea Irina
Abstract excerpt
Goldberg-Shprintzen syndrome (GOSHS, MIM #609460) is an autosomal recessive disorder of intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). In 2005, homozygosity mapping in a large consanguineous family identified KIAA1279 as the disease-causing gene. KIAA1279 encodes KIF-binding protein (KBP), whose function is incompletely understood. Studies have identified either the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.