Novel EDA hemizygous frame-shift mutation c. 731delG (p.R244Qfs*36) underlies hypohidrotic ectodermal dysplasia in a Japanese family

J Dermatol. 2014 Dec;41(12):1110-2. doi: 10.1111/1346-8138.12701.
No abstract available

Publication types

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

MeSH terms

  • Ectodermal Dysplasia 1, Anhidrotic / genetics*
  • Ectodysplasins / genetics*
  • Frameshift Mutation
  • Humans
  • Infant, Newborn
  • Japan
  • Male

Substances

  • EDA protein, human
  • Ectodysplasins