Severe intellectual disability in a patient with Burn-McKeown syndrome

Clin Dysmorphol. 2017 Jul;26(3):193-194. doi: 10.1097/MCD.0000000000000175.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Alleles
  • Child
  • Choanal Atresia / diagnosis*
  • Choanal Atresia / genetics
  • Deafness / congenital*
  • Deafness / diagnosis
  • Deafness / genetics
  • Exome Sequencing
  • Facies
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Mutation
  • Phenotype*
  • Ribonucleoprotein, U5 Small Nuclear / genetics
  • Severity of Illness Index

Substances

  • Ribonucleoprotein, U5 Small Nuclear
  • TXNL4A protein, human

Supplementary concepts

  • Burn-Mckeown syndrome