Whole Exome Sequencing in a Rare Disease: A Patient with Anomalous Left Coronary Artery from the Pulmonary Artery (Bland-White-Garland Syndrome)

OMICS. 2016 May;20(5):325-7. doi: 10.1089/omi.2016.0046.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Bland White Garland Syndrome / diagnosis
  • Bland White Garland Syndrome / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exome Sequencing*
  • Humans
  • Male
  • Mutation
  • Plakophilins / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics*
  • Turkey

Substances

  • CFTR protein, human
  • MEN1 protein, human
  • PKP2 protein, human
  • Plakophilins
  • Proto-Oncogene Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator