A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Ítems similars

• The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
  per: Ha, Kyungsoo, et al.
  Publicat: (2016)
• 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
  per: Labonne, Jonathan D. J., et al.
  Publicat: (2016)
• Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
  per: Kim, Hyung-Goo, et al.
  Publicat: (2019)
• Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
  per: Kim, Hyung-Goo, et al.
  Publicat: (2012)
• Craniofacial Anomalies
  per: Battle, Richard
  Publicat: (1970)