Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD

J Med Genet. 2002 Nov;39(11):807-11. doi: 10.1136/jmg.39.11.807.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Electrocardiography
  • Family Health
  • Female
  • Frameshift Mutation*
  • Genotype
  • Heart Septal Defects, Atrial / genetics*
  • Heart Septal Defects, Atrial / physiopathology
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Mutation, Missense
  • Pedigree
  • Phenotype
  • Sequence Deletion
  • Situs Inversus / genetics*
  • Transcription Factors*
  • Xenopus Proteins*

Substances

  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • NKX2-5 protein, human
  • Transcription Factors
  • Xenopus Proteins
  • DNA

Associated data

  • OMIM/600584