NKX2.1 run-on mutation associated to familial brain-lung-thyroid syndrome

Clin Genet. 2021 Jul;100(1):114-116. doi: 10.1111/cge.13961. Epub 2021 Mar 29.

Abstract

Publication types

  • Letter

MeSH terms

  • Adult
  • Aged
  • Amino Acid Sequence
  • Athetosis / genetics*
  • Cell Line, Tumor
  • Child
  • Chorea / genetics*
  • Congenital Hypothyroidism / genetics*
  • Female
  • HeLa Cells
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Thyroid Nuclear Factor 1 / genetics*

Substances

  • NKX2-1 protein, human
  • Thyroid Nuclear Factor 1

Supplementary concepts

  • Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress