Early prenatal detection of short-rib polydactyly syndrome in a monochorionic diamniotic twin pregnancy

Congenit Anom (Kyoto). 2019 Sep;59(5):181-182. doi: 10.1111/cga.12317. Epub 2018 Nov 15.
No abstract available

MeSH terms

  • Adult
  • Alleles
  • Cytoplasmic Dyneins / genetics
  • DNA Mutational Analysis
  • Female
  • Genotype
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis
  • Short Rib-Polydactyly Syndrome / diagnosis*
  • Short Rib-Polydactyly Syndrome / genetics*
  • Twins, Monozygotic*
  • Ultrasonography, Prenatal

Substances

  • DYNC2H1 protein, human
  • Cytoplasmic Dyneins