Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

Eitemau Tebyg

• Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
  gan: Nagai, T, et al.
  Cyhoeddwyd: (2003)
• Identification of eight novel NSD1 mutations in Sotos syndrome
  gan: Kamimura, J, et al.
  Cyhoeddwyd: (2003)
• Spectrum of NSD1 mutations in Sotos and Weaver syndromes
  gan: Rio, M, et al.
  Cyhoeddwyd: (2003)
• Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
  gan: Douglas, J, et al.
  Cyhoeddwyd: (2005)
• NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
  gan: Douglas, Jenny, et al.
  Cyhoeddwyd: (2003)