Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

Antzeko izenburuak

• Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
  nork: Dukes-Rimsky, Lynn, et al.
  Argitaratua: (2011)
• Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing
  nork: Thiffault, Isabelle, et al.
  Argitaratua: (2020)
• Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
  nork: Makrythanasis, Periklis, et al.
  Argitaratua: (2016)
• De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
  nork: Vetrini, Francesco, et al.
  Argitaratua: (2019)
• Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
  nork: Vetrini, Francesco, et al.
  Argitaratua: (2019)