Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Man Jin KimJee-Soo LeeSeung Won ChaeSung Im ChoJangsup MoonJung Min KoJong-Hee ChaeMoon-Woo Seong

Published in: Orphanet journal of rare diseases (2024)

When conducting molecular diagnostics for ED, opting for targeted sequencing of EDA/EDAR mutations is advisable for cases with classical symptoms, while WES is deemed an effective strategy for cases in which these symptoms are absent.

Keyphrases

single cell
emergency department
sleep quality
genome wide
cancer therapy
single molecule
physical activity
depressive symptoms