Familial aplasia of the vermis

Known as: Cerebelloparenchymal Disorder IV, CORS1, syndrome joubert 
A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea… (More)
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with… (More)
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Highly Cited
2010
Highly Cited
2010
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2… (More)
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Highly Cited
2009
Highly Cited
2009
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited… (More)
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Highly Cited
2008
Highly Cited
2008
Joubert syndrome (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement… (More)
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Highly Cited
2008
Highly Cited
2008
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial… (More)
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Highly Cited
2007
Highly Cited
2007
Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of… (More)
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Highly Cited
2007
Highly Cited
2007
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia… (More)
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Highly Cited
2007
Highly Cited
2007
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations… (More)
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Highly Cited
2004
Highly Cited
2004
Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent… (More)
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Highly Cited
1978
Highly Cited
1978
Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea… (More)
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