A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family

Br J Dermatol. 2012 Oct;167(4):952-4. doi: 10.1111/j.1365-2133.2012.11001.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Child, Preschool
  • China
  • Female
  • Glycoproteins / genetics
  • Humans
  • Hypotrichosis / genetics*
  • Intercellular Signaling Peptides and Proteins
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Pedigree

Substances

  • APCDD1 protein, human
  • CDSN protein, human
  • Glycoproteins
  • Intercellular Signaling Peptides and Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins

Supplementary concepts

  • Hypotrichosis simplex