Article
Molecular pathogenesis of neonatal hypothyroidism.
Hormone research - 1 Jan 2000
Krude H, Biebermann H, Schnabel D, Ambrugger P, Grüters A
Abstract excerpt
In patients with congenital hypothyroidism (CH), the autosomal recessive inheritance of mutations of thyroid peroxidase, thyroglobulin and the NIS and pendrin genes encoding for sodium iodide transporters has been identified. CH due to thyroid dysgenesis was considered to be a sporadic disease, but recently, inheritable defects of thyroid development have been described. The autosomal recessive inheritance of...
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