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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

Web of Science 1 Crossref 1

· 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.

DOI: https://doi.org/10.3345/cep.2022.00948

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