Article

The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism.

2022-10-31

Abstract excerpt

<title>Abstract</title> <p>Thyroglobulin (TG), the predominant glycoprotein of the thyroid gland, functions as matrix protein in thyroid hormonegenesis. TG deficiency results in thyroid dyshormonogenesis. These variants produce a heterogeneous spectrum of congenital goitre, with an autosomal recessive mode of inheritance. The purpose of this study was to identify and functionally characterize new variants in the...

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Literature Corpus work: 76140c08-c6e1-594d-ab68-1fe3ccbe0ec4
DOI: 10.21203/rs.3.rs-2167457/v1

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