Rare Genetic Mechanisms in Dyggve-Melchior-Clausen Disease
Prince Jacob, Lingjuan Hong, Deepa Bhat, Gopika KN, Shushu Huang, Benjamin Kramer, Mohandas Nair K, Monkol Lek, Siddaramappa Jagdish Patil
The paper identifies rare genetic variants in DYM causing Dyggve-Melchior-Clausen disease through reanalysis of whole-exome sequencing data from affected individuals.
medRxiv · Oct 26, 2026 · PreprintGenetic & Genomic Medicine