Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura

Br J Dermatol. 2017 Dec;177(6):e340-e343. doi: 10.1111/bjd.16024. Epub 2017 Nov 29.
No abstract available

Publication types

  • Letter

MeSH terms

  • ADAM10 Protein / genetics*
  • Amyloid Precursor Protein Secretases / genetics*
  • Codon, Nonsense / genetics
  • Female
  • Frameshift Mutation / genetics
  • Haploinsufficiency / genetics
  • Humans
  • Hyperpigmentation / genetics*
  • INDEL Mutation / genetics
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Papulosquamous / genetics*

Substances

  • Codon, Nonsense
  • Membrane Proteins
  • Amyloid Precursor Protein Secretases
  • ADAM10 Protein
  • ADAM10 protein, human

Supplementary concepts

  • Dowling-Degos Disease