Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Ítems similars

• NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
  per: Schanze, Ina, et al.
  Publicat: (2018)
• A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies
  per: Labonne, Jonathan D. J., et al.
  Publicat: (2016)
• Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31
  per: Labonne, Jonathan D. J., et al.
  Publicat: (2020)
• De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
  per: Horn, Susanne, et al.
  Publicat: (2019)
• Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
  per: Woodbury-Smith, Marc, et al.
  Publicat: (2017)