Mosaic RASopathies concept: different skin lesions, same systemic manifestations?

Conclusion This review delineates genotype/phenotype correlations of syndromic epidermal nevi with somatic RAS and BRAF pathogenic variants and may help improve their follow-up.

http://jmg.bmj.com/cgi/content/short/61/5/411?rss=1

Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Morren, M.-A., Fodstad, H., Brems, H., Bedoni, N., Guenova, E., Jacot-Guillarmod, M., Busiah, K., Giuliano, F., Gilliet, M., Atallah, I. Tags: Genotype-phenotype correlations Source Type: research