Meckel syndrome type 3

Known as: MKS3, Meckel Syndrome, Type 3, Meckel-Gruber Syndrome, Type 3 
 

Topic mentions per year

Topic mentions per year

2002-2017
02420022017

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2015
2015
Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a… (More)
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2013
2013
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as… (More)
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2009
2009
Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic… (More)
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2009
2009
Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary… (More)
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Highly Cited
2008
Highly Cited
2008
Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic… (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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2007
2007
Meckel–Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital… (More)
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Highly Cited
2006
Highly Cited
2006
Meckel-Gruber syndrome is a severe autosomal, recessively inherited disorder characterized by bilateral renal cystic dysplasia… (More)
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2003
2003
Meckel syndrome (MKS–OMIM 24900) is an autosomal recessive disease characterized by cystic kidneys, occipital encephalocele… (More)
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2002
2002
Meckel-Gruber syndrome (MKS), the most common monogenic cause of neural tube defects, is an autosomal recessive disorder… (More)
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