Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Antzeko izenburuak

• An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
  nork: Kahrizi, Kimia, et al.
  Argitaratua: (2009)
• A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation
  nork: Garshasbi, Masoud, et al.
  Argitaratua: (2008)
• A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation
  nork: Motazacker, Mohammad Mahdi , et al.
  Argitaratua: (2007)
• ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
  nork: Hu, Hao, et al.
  Argitaratua: (2011)
• Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
  nork: Abbasi-Moheb, Lia, et al.
  Argitaratua: (2012)