Article
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development.
The Journal of investigative dermatology - 1 Aug 2012
Kinsler Veronica A, Abu-Amero Sayeda, Budd Peter, Jackson Ian J, Ring Susan M, Northstone Kate, Atherton David J, Bulstrode Neil W, Stanier Philip, Hennekam Raoul C, Sebire Neil J, Moore Gudrun E, Healy Eugene
Abstract excerpt
Congenital melanocytic nevi (CMN) are pigmented birthmarks that affect up to 80% of the skin surface area. The increased frequency of CMN in families of severely affected individuals is suggestive of a predisposing germline genotype. We noted a high prevalence of red hair in affected families, and considered a role for MC1R in this condition. A cohort of 166 CMN subjects underwent pigmentary phenotyping, with...
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