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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Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2007
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Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1785313/
https://ncbi.nlm.nih.gov/pubmed/17160906
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