Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.

ABSTRACT: To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term "ectodermal dysplasia", referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on

SUBMITTER: Peschel N 

PROVIDER: S-EPMC9778228 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature