Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

Antzeko izenburuak

• Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene
  nork: Hoglund, P, et al.
  Argitaratua: (2003)
• Identification of eight novel NSD1 mutations in Sotos syndrome
  nork: Kamimura, J, et al.
  Argitaratua: (2003)
• Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome
  nork: Miyake, Noriko, et al.
  Argitaratua: (2003)
• Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation
  nork: Harada, N, et al.
  Argitaratua: (2004)
• Spectrum of NSD1 mutations in Sotos and Weaver syndromes
  nork: Rio, M, et al.
  Argitaratua: (2003)