A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family

Br J Dermatol. 2018 Feb;178(2):556-558. doi: 10.1111/bjd.15661. Epub 2017 Dec 1.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Autoantigens / genetics*
  • Female
  • Genes, Recessive / genetics
  • Homozygote
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Mutation, Missense / genetics*
  • Nails, Malformed / genetics*
  • Pakistan
  • Pedigree
  • Young Adult

Substances

  • Autoantigens
  • Membrane Transport Proteins
  • SLC25A16 protein, human