Sotos syndrome: An unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor
Author:
Affiliation:
1. University of Newcastle; Callaghan New South Wales Australia
2. Hunter Genetics; Waratah New South Wales Australia
3. Pediatric Endocrinology; John Hunter Children's Hospital; New Lambton Height New South Wales Australia
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37535/fullpdf
Reference25 articles.
1. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth;Cecconi;Am J Med Genet Part A,2005
2. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype;Castronovo;Am J Med Genet Part A,2013
3. Sotos syndrome: A study of the diagnostic criteria and natural history;Cole;J Med Genet,1994
4. 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
5. Mapping of primary congenital lymphedema to the 5q35.3 region;Evans;Am J Hum Genet,1999
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