Investigates thyroid dysfunction in Down Syndrome, revealing unique developmental and molecular changes.
These findings suggest that congenital thyroid dysfunction in DS represents a DS-specific form of thyroid dysfunction, characterized by impaired thyroid development and altered expression and regulation of genes involved in thyroid function and general cellular processes. The genome-wide molecular changes observed likely result from gene dosage effects and systemic (epi)genomic disturbances caused by trisomy 21.
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Lauffer et al. (2026) studied this question.
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