Search

  • HOME
  • Search
Review Article
Endocrinology
Applications of genomic research in pediatric endocrine diseases
Ja Hye Kim, Jin-Ho Choi
Clin Exp Pediatr. 2023;66(12):520-530.   Published online June 14, 2023
· Recent advances in molecular genetics have improved our understanding of pediatric endocrine disorders and are now used in mainstream medical practice.
· Genome-wide association studies can increase our understanding of the biological mechanisms of disease and inform new therapeutic options.
· The identification of founder mutations leads to the efficient localization of the genes underlying Mendelian disorders.
· Next-generation sequencing technologies benefit clinical practice and research of pediatric endocrinology.
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)