Ontology highlight
ABSTRACT:
SUBMITTER: Sriphrapradang C
PROVIDER: S-EPMC5404897 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Sriphrapradang Chutintorn C Choopun Kitjapong K Tunteeratum Atchara A Sura Thanyachai T
Clinical medicine insights. Endocrinology and diabetes 20170420
Mutations in the <i>VHL, RET, SDHB</i>, and <i>SDHD</i> genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In ...[more]