Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia

J Dermatol. 2021 Jan;48(1):e29-e30. doi: 10.1111/1346-8138.15653. Epub 2020 Nov 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child, Preschool
  • Ectodermal Dysplasia 1, Anhidrotic* / diagnosis
  • Ectodermal Dysplasia 1, Anhidrotic* / genetics
  • Ectodermal Dysplasia* / diagnosis
  • Ectodermal Dysplasia* / genetics
  • Ectodysplasins / genetics*
  • Female
  • Humans
  • Male
  • Mutagenesis, Insertional
  • Mutation
  • Pedigree

Substances

  • EDA protein, human
  • Ectodysplasins