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Meckel syndrome type 3

Known as: MECKEL-GRUBER SYNDROME, TYPE 3, MKS3, Meckel Syndrome, Type 3 
 
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as… Expand
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Highly Cited
2010
Highly Cited
2010
OBJECTIVE To identify genetic causes of COACH syndrome BACKGROUND COACH syndrome is a rare autosomal recessive disorder… Expand
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Highly Cited
2009
Highly Cited
2009
Meckel syndrome (MKS) is a lethal disorder characterized by renal cystic dysplasia, encephalocele, polydactyly and biliary… Expand
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2009
2009
Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic… Expand
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Highly Cited
2008
Highly Cited
2008
Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital… Expand
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Highly Cited
2007
Highly Cited
2007
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia… Expand
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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… Expand
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2007
2007
Meckel–Gruber syndrome (MKS) is a recessively inherited, lethal disorder characterized by renal cystic dysplasia, occipital… Expand
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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… Expand
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2002
2002
Abstract. Meckel-Gruber syndrome (MKS), the most common monogenic cause of neural tube defects, is an autosomal recessive… Expand
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