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Publication year
2010Author(s)
Source
Nature Genetics, 42, 6, (2010), pp. 483-5ISSN
Annotation
01 juni 2010
Publication type
Article / Letter to editor
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Organization
Human Genetics
Journal title
Nature Genetics
Volume
vol. 42
Issue
iss. 6
Page start
p. 483
Page end
p. 5
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; NCMLS 6: Genetics and epigenetic pathways of diseaseAbstract
Schinzel-Giedion syndrome is characterized by severe mental retardation, distinctive facial features and multiple congenital malformations; most affected individuals die before the age of ten. We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four. We also identified SETBP1 mutations in eight additional cases using Sanger sequencing. All mutations clustered to a highly conserved 11-bp exonic region, suggesting a dominant-negative or gain-of-function effect.
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- Academic publications [238441]
- Electronic publications [122508]
- Faculty of Medical Sciences [90373]
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