Ontology highlight
ABSTRACT:
SUBMITTER: Sung JY
PROVIDER: S-EPMC4151011 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Annals of laboratory medicine 20140821 5
Long QT syndrome (LQTS) is a genetically heterogeneous disorder associated with sequence variations in more than 10 genes; in some cases, it is caused by large deletions or duplications among the main, known LQTS-associated genes. Here, we describe a 14-month-old Korean boy with congenital hearing loss and prolonged QT interval whose condition was clinically diagnosed as Jervell and Lange-Nielsen syndrome (JLNS), a recessive form of LQTS. Genetic analyses using sequence analysis and multiplex li ...[more]