MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference12 articles.
1. Growth in Sotos syndrome;Agwu;Arch. Dis. Child.,1999
2. Overgrowth;Ambler;Best Pratice Res. Clin. Metab.,2002
3. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes;Douglas;Am. J. Hum. Genet.,2003
4. Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification;Douglas;J. Med. Genet.,2005
5. NSD1 mutations in Sotos syndrome;Faravelli;Am. J. Med. Genet.,2005
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