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
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.
Zhu S et al.
Human Mutation, 2025
40918684 (PubMed )
Supplement: 6824122.f3.xlsx › Table_S3
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
Itai T et al.
Hgg Advances, 2024
38807368 (PubMed )
Supplement: mmc2.xlsx › Table_S3
Structure, function, and pathology of protein O-glucosyltransferases.
Mehboob MZ et al.
Cell Death & Disease, 2021
Vesicular variant of Dowling-Degos disease.
Linke M et al.
The British Journal of Dermatology, 2018
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
Basmanav FB et al.
American Journal of Human Genetics, 2014
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