doi: 10.1038/ng863.
Epub 2002 Mar 18.
Haploinsufficiency of NSD1 causes Sotos syndrome
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- PMID: 11896389
- DOI: 10.1038/ng863
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Haploinsufficiency of NSD1 causes Sotos syndrome
Nat Genet.
2002 Apr.
Abstract
We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome.
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