A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia

J Med Genet. 2012 Aug;49(8):499-501. doi: 10.1136/jmedgenet-2012-100877.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • DNA Mutational Analysis
  • Eccrine Glands / pathology
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Genome, Human*
  • Humans
  • Male
  • Molecular Sequence Data
  • Protein Interaction Domains and Motifs*
  • Sequence Deletion*
  • TNF Receptor-Associated Factor 6 / genetics*
  • Xedar Receptor / genetics*

Substances

  • EDA2R protein, human
  • TNF Receptor-Associated Factor 6
  • Xedar Receptor