P145: Expanding the genetic and phenotypic spectrum of ectodermal dysplasia using short- and long-read genome sequencing

Genetics in Medicine Open 2026 Open access

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Authors: Chloe Munderloh, Raymond Belanger Deloge, Moez Dawood, Nikhita Gogate, Shaghayegh T. Beheshti, Shalini N. Jhangiani, Ryan Cheng, Haowei Du, Ming Zhu, Yilei Fu, Adam English, Fritz Joachim Sedlazeck
+7 more Daniel G. Calame, Riccardo Sangermano, Kinga M. Bujakowska, Eric Venner, Richard A. Gibbs, Richard Alan Lewis, Jennifer Ellen Posey
DOI: 10.1016/j.gimo.2026.103639
Cited by: 0

Abstract

Ectodermal dysplasias (EDs) are a diverse and genetically heterogeneous group of inherited disorders affecting the development of ectoderm-derived structures, including hair, teeth, nails, and skin and/or glands. More than 40 genes have been implicated across overlapping developmental pathways, but despite these advances, a substantial portion of clinically diagnosed ED cases remain unsolved at the molecular level.

Fields of Study & Subjects

dental development and anomalies Genomics and Rare Diseases Genetic and rare skin diseases.

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103639–103639
Publication date
1 January 2026
Language
EN