PKD1L1-related situs inversus associated with sideroblastic anemia

Clin Genet. 2019 May;95(5):629-630. doi: 10.1111/cge.13512. Epub 2019 Feb 21.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Sideroblastic / complications*
  • Anemia, Sideroblastic / diagnostic imaging
  • Anemia, Sideroblastic / genetics
  • Base Sequence
  • Child, Preschool
  • Exome Sequencing
  • Humans
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics
  • Situs Inversus / complications*
  • Situs Inversus / diagnostic imaging
  • Situs Inversus / genetics

Substances

  • Membrane Proteins
  • PKD1L1 protein, human

Grants and funding