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Article

Mutations in TMEM231 cause Joubert syndrome in French Canadians.

Journal of medical genetics - 1 Oct 2012

Srour Myriam, Hamdan Fadi F, Schwartzentruber Jeremy A, Patry Lysanne, Ospina Luis H, Shevell Michael I, Désilets Valérie, Dobrzeniecka Sylvia, Mathonnet Géraldine, Lemyre Emmanuelle, Massicotte Christine, Labuda Damian, Amrom Dina, Andermann Eva, Sébire Guillaume, Maranda Bruno, Rouleau Guy A, Majewski Jacek, Michaud Jacques L

Abstract excerpt

BACKGROUND: Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain malformation, oculomotor apraxia, breathing abnormalities and developmental delay. JBTS is genetically heterogeneous, involving genes required for formation and function of non-motile cilia. Here we investigate the genetic basis of JBTS in 12 French-Canadian (FC) individuals. METHODS AND...

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PMID: 23012439
DOI: 10.1136/jmedgenet-2012-101132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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