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A Single Nucleotide Deletion resulting in Frameshift in Two Korean Neonates with Thyroxine-Binding Globulin Deficiency

Sang-Joon Park, Jin-Soon Suh, Min-Ho Jung, Hee-Jin Lee, Hee-Jin Lee, Won-Bae Lee, Byung-Churl Lee

Clin Exp Pediatr. 2005;48(11):1252-1255. Published online November 15, 2005

Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low...

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