Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.

Michael R Sargen,Jung Kim,Thomas P Potjer, Mary E Velthuizen, Arelis E Martir-Negron, Yazmin Odia,Hildur Helgadottir,Jessica N Hatton,Jeremy S Haley, Gretchen Thone,Brigitte C Widemann,Andrea M Gross,Marielle E Yohe,Rosandra N Kaplan,Jack F Shern,R Taylor Sundby,Esteban Astiazaran-Symonds,Xiaohong R Yang,David J Carey,Margaret A Tucker,Douglas R Stewart,Alisa M Goldstein

JAMA dermatology（2023）

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摘要

This cohort study estimates the prevalence and describes the tumors of MAS. Additional studies are needed in genetically diverse populations to further define population prevalence and disease phenotypes.

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