Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing

Chin Med J (Engl). 2016 Aug 5;129(15):1882-3. doi: 10.4103/0366-6999.186634.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • DNA Mutational Analysis / methods*
  • Ellis-Van Creveld Syndrome / diagnosis*
  • Female
  • Humans
  • Intercellular Signaling Peptides and Proteins
  • Male
  • Membrane Proteins
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Proteins / genetics
  • Ultrasonography, Prenatal

Substances

  • EVC protein, human
  • EVC2 protein, human
  • Intercellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Proteins