Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights
These two EDAR variants broaden the mutational and phenotypic spectrum of EDAR-related ED and, to our knowledge, represent the first cases reported from Thailand, thereby expanding the geographic and ethnic understanding of EDAR-associated disorders. Beyond variant identification, this study emphasizes the diagnostic value of incorporating salivary flow and ultrastructural assessments into phenotyping, features rarely evaluated in prior reports.
Authors
- Narin Intarak (ORCID: https://orcid.org/0000-0001-7504-1403)
- Sermporn Thaweesapphithak (ORCID: https://orcid.org/0000-0002-0327-5320)
- Kanokwan Sriwattanapong (ORCID: https://orcid.org/0000-0003-1133-1983)
- Annop Krasaesin (ORCID: https://orcid.org/0000-0002-1102-9162)
- Kausar Sadia Fakhruddin
- Waleerat Sukarawan (ORCID: https://orcid.org/0000-0002-0243-0712)
- Thantrira Porntaveetus (ORCID: https://orcid.org/0000-0003-0145-9801)
- Sasiprapa Prommanee (ORCID: https://orcid.org/0009-0007-1557-388X)
- Nawapan Pongsapipatana
Institutions
- Chulalongkorn University (TH)
- The University of Western Australia (AU)
Publication Details
- Journal
- BMC Oral Health
- Published
- 2025-11-04
- DOI
- https://doi.org/10.1186/s12903-025-07103-x
- Citations
- 1
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Chulalongkorn University
- Health Systems Research Institute
- Thailand Science Research and Innovation