[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]

An Pediatr (Engl Ed). 2020 Mar;92(3):169-171. doi: 10.1016/j.anpedi.2019.03.010. Epub 2019 May 27.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Endopeptidases / genetics*
  • Facies
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Limb Deformities, Congenital / genetics*
  • Mutation
  • Seizures / genetics*
  • Spain
  • Syndrome

Substances

  • Endopeptidases
  • OTUD6B protein, human