Associated Papers
Beneath the surface: delineating the subtypes of Dowling-Degos disease.
Kumar S et al.
The British Journal of Dermatology, 2025
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.
Tomasini D et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2025
Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.
Kumar S et al.
The Journal of Investigative Dermatology, 2024
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Structure, function, and pathology of protein O-glucosyltransferases.
Mehboob MZ et al.
Cell Death & Disease, 2021
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB et al.
American Journal of Human Genetics, 2014
Select a paper to view details