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Refetoff, Samuel
One or more keywords matched the following items that are connected to
Refetoff, Samuel
Item Type
Name
Concept
Thyroid Dysgenesis
Academic Article
Analysis of the PAX8 gene in congenital hypothyroidism caused by different forms of thyroid dysgenesis in a father and daughter.
Academic Article
Mutations in the NKX2.5 gene and the PAX8 promoter in a girl with thyroid dysgenesis.
Academic Article
Resistance to thyroid hormone in a patient with thyroid dysgenesis.
Academic Article
Probing the cause of thyroid dysgenesis.
Academic Article
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Academic Article
Resistance to thyrotropin.
Academic Article
Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Academic Article
A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.
Search Criteria
Thyroid Dysgenesis