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Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.

Annals of clinical and laboratory science - 1 Jan 2021

Shin Jung Hyun, Kim Hye Young, Kim Young Mi, Lee Heirim, Bae Mi Hye, Park Kyung Hee, Lee Sae-Mi, Kwak Min Jung

Abstract excerpt

OBJECTIVE: To analyze the genetic causes of congenital hypothyroidism through the targeted exome sequencing of pediatric patients with congenital hypothyroidism with thyroid gland in situ. METHOD: The study population included 20 patients diagnosed with congenital hypothyroidism with thyroid gland in situ at the Pediatric Endocrinology Clinic of Pusan National University Hospital. Targeted exome sequencing was...

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PMID: 33653783

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