Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Heejong SungPaula L HylandAlexander PemovJeremy A SabourinAndrea M BaldwinSara BassKedest TeshomeWen Luonull nullBrigitte C WidemannDouglas R StewartAlexander F WilsonPublished in: Molecular genetics & genomic medicine (2020)
rs12190451 is located in a melanocyte-specific enhancer and may influence RPS6KA2 expression in melanocytes-warranting further functional studies.