Identified a novel splicing mutation at EDA gene in a hypohidrotic ectodermal dysplasia pedigree

Oral Dis. 2023 Nov;29(8):3164-3167. doi: 10.1111/odi.14362. Epub 2022 Sep 9.
No abstract available

Keywords: EDA; hypohidrotic ectodermal dysplasia; splicing mutation; syndromic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ectodermal Dysplasia 1, Anhidrotic* / genetics
  • Ectodermal Dysplasia* / genetics
  • Ectodysplasins / genetics
  • Humans
  • Mutation
  • Pedigree

Substances

  • Ectodysplasins