A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network

J Pediatr. 2018 May;196:291-297.e2. doi: 10.1016/j.jpeds.2017.12.029. Epub 2018 Jan 11.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child, Preschool
  • Forkhead Transcription Factors / genetics
  • Genetic Testing / methods*
  • Genotype
  • Government Programs / methods
  • Humans
  • Male
  • Mutation
  • NAV1.5 Voltage-Gated Sodium Channel / genetics
  • National Institutes of Health (U.S.) / organization & administration
  • Nerve Tissue Proteins / genetics
  • Phenotype
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics
  • United States

Substances

  • FOXG1 protein, human
  • Forkhead Transcription Factors
  • NAV1.5 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN5A protein, human