Clinical utility gene card for: Meckel syndrome - update 2016

Eur J Hum Genet. 2016 Aug;24(8). doi: 10.1038/ejhg.2016.33. Epub 2016 Apr 20.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ciliary Motility Disorders / diagnosis
  • Ciliary Motility Disorders / genetics*
  • DNA Mutational Analysis / methods*
  • Diagnosis, Differential
  • Encephalocele / diagnosis
  • Encephalocele / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Mutation*
  • Polycystic Kidney Diseases / diagnosis
  • Polycystic Kidney Diseases / genetics*
  • Proteins / genetics
  • Retinitis Pigmentosa

Substances

  • MKS1 protein, human
  • Proteins

Supplementary concepts

  • Meckel syndrome type 1