Meckel-Gruber syndrome

Known as: dysencephalia splanchnocystica, meckel gruber syndrome 
A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic… (More)
National Institutes of Health

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2015
2015
INTRODUCTION Meckel-Gruber Syndrome was first described by J R Meckel in 1822. It is an autosomal recessive disorder, and is… (More)
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2013
2013
BACKGROUND Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality… (More)
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2011
2011
Meckel Gruber syndrome (MKS) is an autosomal recessive multisystem disorder that represents a severe form of ciliopathy in humans… (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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Highly Cited
2007
Highly Cited
2007
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia… (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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Review
2006
Review
2006
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological… (More)
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1996
1996
  • Zeitschrift fur Geburtshilfe und Neonatologie
  • 1996
The lethal Meckel-Gruber-Syndrome can be diagnosed prenatally during ultrasound screening between 16 and 20 weeks of pregnancy… (More)
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1990
1990
Five Bedouin sibs are described with Meckel-Gruber syndrome (MGS), an autosomal recessive disorder with multiple abnormalities… (More)
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