Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole‐exome sequencing
Ching‐Chao Tsai,
Yu‐Ming Chang,
Yen‐Yin Chou
et al.
Abstract:Thyroid dyshormonogenesis (TDH) is responsible for 15%–25% of congenital hypothyroidism (CH) cases. Pathogenetic variants of this common inherited endocrine disorders vary geographically. Unraveling the genetic underpinnings of TDH is essential for genetic counseling and precise therapeutic strategies. This study aims to identify genetic variants associated with TDH in Southern Taiwan using whole exome sequencing (WES). We included CH patients diagnosed through newborn screening at a tertiary medical center fr… Show more
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