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Meckel syndrome type 3

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

Papers overview

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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
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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Highly Cited
2009
Highly Cited
2009
Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder… Expand
Highly Cited
2009
Highly Cited
2009
The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia… Expand
Highly Cited
2008
Highly Cited
2008
Meckel‐Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital… Expand
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
Highly Cited
2007
Highly Cited
2007
Joubert syndrome (JS) and related disorders are characterized by the ‘molar tooth sign’ (cerebellar vermis hypoplasia and… Expand
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Highly Cited
2007
Highly Cited
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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