Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome

Br J Dermatol. 2020 Oct;183(4):756-757. doi: 10.1111/bjd.19123. Epub 2020 May 26.
No abstract available

Publication types

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

MeSH terms

  • Ectodermal Dysplasia*
  • Founder Effect
  • Humans
  • Hypohidrosis*
  • Keratin-14 / genetics
  • Keratoderma, Palmoplantar*
  • Mutation / genetics

Substances

  • KRT14 protein, human
  • Keratin-14

Supplementary concepts

  • Naegeli syndrome