Expanded phenotypic spectrum of JAG1-associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in JAG1

Clin Genet. 2021 May;99(5):742-743. doi: 10.1111/cge.13915. Epub 2021 Jan 12.

Abstract

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Alagille Syndrome / genetics
  • Humans
  • Infant, Newborn
  • Jagged-1 Protein / genetics*
  • Lymphatic Diseases / genetics*
  • Mutation
  • Phenotype
  • Stenosis, Pulmonary Artery / genetics

Substances

  • JAG1 protein, human
  • Jagged-1 Protein