Ontology highlight
ABSTRACT:
SUBMITTER: Wang J
PROVIDER: S-EPMC6902464 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
BMC medical genetics 20191210 1
<h4>Background</h4>Von Hippel-Lindau (VHL) syndrome is a familial autosomal dominant hereditary neoplastic disease caused by mutations in the VHL gene. Approximately 503 kinds of VHL gene mutations have been reported. Different types of mutations manifest various clinical phenotypes, from benign to malignant tumours or coexisting cysts. Thus, a gene mutation test is essential in the diagnosis of VHL syndrome.<h4>Case presentation</h4>We reported two cases in which a novel mutation site in the c5 ...[more]