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Molecular aspects of the etiopathogenesis of the parathyroid gland diseases
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Abstract
Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.
Abstract
Their inherited mode and genetic abnormalities have been described. Particularly, the following genes: HRPT2, MEN1, RET, CASR, GNAS have been shown. Localization, structure, expression and structural changes (mutations) found in patients with familial parathyroid gland diseases have been presented. Attention has been paid to clinical and histopathologic symptoms, which should indicate the need to undertake genetic studies.
Keywords
familial primary hyperparathyroidism; hypoparathyroidism; pseudohypoparathyroidism; HRTP 2 gene; MEN1 gene; PTH gene; CASR gene; GNAS 1 gene
About this articleTitle
Molecular aspects of the etiopathogenesis of the parathyroid gland diseases
Journal
Issue
Article type
Other materials agreed with the Editors
Pages
327-332
Published online
2006-03-24
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451
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1571
Bibliographic record
Endokrynol Pol 2005;56(3):327-332.
Keywords
familial primary hyperparathyroidism
hypoparathyroidism
pseudohypoparathyroidism
HRTP 2 gene
MEN1 gene
PTH gene
CASR gene
GNAS 1 gene
Authors
Katarzyna Łącka
