The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome

Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a geneti...

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Autori principali: Baala, Lekbir, Romano, Stéphane, Khaddour, Rana, Saunier, Sophie, Smith, Ursula M., Audollent, Sophie, Ozilou, Catherine, Faivre, Laurence, Laurent, Nicole, Foliguet, Bernard, Munnich, Arnold, Lyonnet, Stanislas, Salomon, Rémi, Encha-Razavi, Férechté, Gubler, Marie-Claire, Boddaert, Nathalie, Lonlay, Pascale de, Johnson, Colin A., Vekemans, Michel, Antignac, Corinne, Attié-Bitach, Tania
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785313/
https://ncbi.nlm.nih.gov/pubmed/17160906
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