Article
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
American journal of human genetics - 6 Apr 2012
Srour Myriam, Schwartzentruber Jeremy, Hamdan Fadi F, Ospina Luis H, Patry Lysanne, Labuda Damian, Massicotte Christine, Dobrzeniecka Sylvia, Capo-Chichi José-Mario, Papillon-Cavanagh Simon, Samuels Mark E, Boycott Kym M, Shevell Michael I, Laframboise Rachel, Désilets Valérie, Maranda Bruno, Rouleau Guy A, Majewski Jacek, Michaud Jacques L
Abstract excerpt
Joubert syndrome (JBTS) is an autosomal-recessive disorder characterized by a distinctive mid-hindbrain malformation, developmental delay with hypotonia, ocular-motor apraxia, and breathing abnormalities. Although JBTS was first described more than 40 years ago in French Canadian siblings, the causal mutations have not yet been identified in this family nor in most French Canadian individuals subsequently...
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