An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis

Eur J Dermatol. 2018 Feb 1;28(1):119-120. doi: 10.1684/ejd.2017.3186.
No abstract available

Publication types

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

MeSH terms

  • Cafe-au-Lait Spots / etiology
  • Cafe-au-Lait Spots / genetics
  • Child, Preschool
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Male
  • Melanosis / etiology
  • Melanosis / genetics
  • Piebaldism / complications
  • Piebaldism / diagnosis*
  • Piebaldism / genetics*