Schinzel-Giedion syndrome

Known as: Schinzel-Giedion Midface-Retraction Syndrome, Schinzel Giedion midface-retraction syndrome, Schinzel-Giedion Midface Retraction Syndrome 
An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital… (More)
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2008
2008
We report on the 46th patient with Schinzel-Giedion syndrome (SGS) and the first observation of splenopancreatic fusion in this… (More)
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Review
2001
Review
2001
A 2-month-old girl was brought to the Department of Pediatrics at Wakayama Rosai Hospital because of poor feeding since 1 month… (More)
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Review
1996
Review
1996
We describe a male infant with findings typical of Schinzel-Giedion syndrome. Characteristic features include: midface retraction… (More)
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1995
1995
We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following… (More)
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1994
1994
Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of… (More)
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1994
1994
The Schinzel-Giedion is an autosomal recessive syndrome characterized by midface retraction, hypertrichosis, multiple skeletal… (More)
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1994
1994
Schinzel-Giedion syndrome (SGS) is a rare and incompletely defined condition. This is the third postmortem study on a boy with… (More)
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1993
1993
The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital… (More)
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Review
1990
Review
1990
Children with Schinzel-Giedion syndrome can have a variety of distinctive features. In most affected individuals, the middle of… (More)
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