Work

Proposing GLMN, encoding glomulin, as a novel gene for Dowling–Degos disease

Year: 2024

Type: article

Abstract: Dowling–Degos disease (DDD) is a rare hyperpigmentation disorder with autosomal-dominant inheritance. To date, work by our group and others has identified a total of four DDD sub-phenotypes, which arise secondary to variants in KRT5, POFUT1, POGLUT1 and PSENEN. We postulate that GLMN is a novel fifth gene for DDD that contributes to a hitherto unrecognized DDD sub-phenotype.

Source: British Journal of Dermatology

DOI: 10.1093/bjd/ljae418

Authors: Sheetal Kumar, Regina C Betz, Jorge Frank

Institutions: University of Bonn, University Hospital Bonn, Universitätsmedizin Göttingen, University of Göttingen

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4403775533

FWCI: 0.727

Cites: 4

Cited by: 3

Related to: 10