Genome ‐wide association study of café‐au‐lait macule number in neurofibromatosis type 1

Conclusionrs12190451 is located in a melanocyte ‐specific enhancer and may influenceRPS6KA2 expression in melanocytes —warranting further functional studies.

Source: Molecular Genetics & Genomic Medicine - August 30, 2020 Category: Genetics & Stem Cells Authors: Heejong Sung, Paula L. Hyland, Alexander Pemov, Jeremy A. Sabourin, Andrea M. Baldwin, Sara Bass, Kedest Teshome, Wen Luo, Frederick National Laboratory for Cancer Research, Brigitte C. Widemann, Douglas R. Stewart, Alexander F. Wilson Tags: ORIGINAL ARTICLE Source Type: research