Ontology highlight
ABSTRACT:
SUBMITTER: Sung H
PROVIDER: S-EPMC7549607 | biostudies-literature | 2020 Aug
REPOSITORIES: biostudies-literature
Sung Heejong H Hyland Paula L PL Pemov Alexander A Sabourin Jeremy A JA Baldwin Andrea M AM Bass Sara S Teshome Kedest K Luo Wen W Widemann Brigitte C BC Stewart Douglas R DR Wilson Alexander F AF
Molecular genetics & genomic medicine 20200831 10
<h4>Background</h4>Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as modifier genes; however, few genetic modifiers have been identified to date.<h4>Methods</h4>In this study, we performed a genome-wide association analysis of the number of café-au-lait macules (CALM) that are considered a tumor-like trait as a clinical p ...[more]