Identification of eight novel NSD1 mutations in Sotos syndrome

Ítems similars

• Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene
  per: Hoglund, P, et al.
  Publicat: (2003)
• Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
  per: Nagai, T, et al.
  Publicat: (2003)
• Non-hotspot-related breakpoints of common deletions in Sotos syndrome are located within destabilised DNA regions
  per: Visser, R, et al.
  Publicat: (2005)
• Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome
  per: Miyake, Noriko, et al.
  Publicat: (2003)
• Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion
  per: Visser, Remco, et al.
  Publicat: (2005)