Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly

Clin Genet. 2017 Mar;91(3):499-500. doi: 10.1111/cge.12870. Epub 2016 Oct 10.

Abstract

Publication types

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

MeSH terms

  • Brachydactyly / etiology*
  • Brachydactyly / genetics
  • Cardiomyopathy, Dilated / etiology*
  • Cardiomyopathy, Dilated / genetics
  • Humans
  • Lamin Type A / genetics*
  • Mutation
  • Pedigree
  • Syndrome

Substances

  • LMNA protein, human
  • Lamin Type A