Article
Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.
Pigment cell & melanoma research - 1 Sept 2020
Calbet-Llopart Neus, Pascini-Garrigos Mirella, Tell-Martí Gemma, Potrony Miriam, Martins da Silva Vanessa, Barreiro Alicia, Puig Susana, Captier Guillaume, James Isabelle, Degardin Nathalie, Carrera Cristina, Malvehy Josep, Etchevers Heather C, Puig-Butillé Joan Anton
Abstract excerpt
Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies suggest that germline genetic factors may influence CMN development. In CMN patients from the U.K., genetic variants in MC1R, such as p.V92M and loss-of-function variants, have been previously associated with larger CMN....
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