A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.

@article{Liu2018ANS,
  title={A novel splicing mutation of ectodysplasin A gene responsible for hypohidrotic ectodermal dysplasia.},
  author={G Liu and Xinyu Wang and Man Qin and Li-jie Sun and Jun Zhu},
  journal={Oral diseases},
  year={2018}
}
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypodontia, sparse hair, and characteristic facial features. This condition is caused by an ectodysplasin A (EDA) gene mutation. In this study, we examined two HED pedigrees and investigated the molecular genetics of the defect. Direct sequencing analysis revealed a previously… CONTINUE READING