Journal article
A novel candidate gene in autosomal dominant facial pruritus
BA Thompson, K Dear, E Donaldson, R Nixon, IM Winship
Clinical and Experimental Dermatology | Published : 2022
DOI: 10.1111/ced.14883
Abstract
In the clinical investigation of a family with debilitating centrofacial pruritus by exome sequencing, we have observed a clear segregation of the TRPM3 variant outlined, which is highly suggestive of a causal relationship.
Grants
Funding Acknowledgements
Informed consent was obtained from the participants for publication of their case details and images. The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health and by NCI, NHGRI, NHLBI, NIDA, NIMH and NINDS. The data used for the analyses described in this manuscript were obtained from the GTEx Portal on 18 May 2021.