Article
Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.
BMC oral health - 4 Nov 2025
Thaweesapphithak Sermporn, Krasaesin Annop, Prommanee Sasiprapa, Intarak Narin, Pongsapipatana Nawapan, Sriwattanapong Kanokwan, Sukarawan Waleerat, Fakhruddin Kausar S, Porntaveetus Thantrira
Abstract excerpt
BACKGROUND: Ectodermal dysplasia (ED) is a group of inherited disorders that affect ectodermally derived structures, including teeth, hair, sweat glands, and salivary glands. Variants in the EDAR gene, particularly within its intracellular death domain, disrupt EDA signaling and contribute to ED. Although EDAR-associated ED is well documented globally, clinical and molecular data from Southeast Asia remain...
Read the complete abstract on PubMedTopics
- Female
- Humans
- Male
- Ectodermal Dysplasia
- Edar Receptor
- Mutation