Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Clin Genet. 2015 Jun;87(6):602-3. doi: 10.1111/cge.12494. Epub 2014 Oct 21.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carrier Proteins / genetics
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diarrhea, Infantile / diagnosis*
  • Diarrhea, Infantile / genetics*
  • Exome*
  • Facies
  • Female
  • Fetal Growth Retardation / diagnosis*
  • Fetal Growth Retardation / genetics*
  • Genotype
  • Hair Diseases / diagnosis*
  • Hair Diseases / genetics*
  • Humans
  • Mutation
  • Pedigree
  • Sequence Analysis, DNA*

Substances

  • Carrier Proteins
  • TTC37 protein, human

Supplementary concepts

  • Trichohepatoenteric Syndrome