Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

Ítems similars

• Intellectual disability associated with a homozygous missense mutation in THOC6
  per: Beaulieu, Chandree L, et al.
  Publicat: (2013)
• Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
  per: de Brouwer, Arjan P.M., et al.
  Publicat: (2018)
• A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly
  per: Abdulkarim, Baroj, et al.
  Publicat: (2015)
• A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A
  per: Fine, Dina, et al.
  Publicat: (2015)
• Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
  per: Makrythanasis, Periklis, et al.
  Publicat: (2016)