Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor-Reference-Cited by-同舟云学术

Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor

Published:2004-02 Issue:2 Volume:60 Page:220-227
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Park S.-M.,Clifton-Bligh R. J.,Betts P.,Chatterjee V. K. K.

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2004.01967.x/fullpdf

Reference38 articles.

1. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.

2. Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism

3. The human thyrotropin receptor activates G-proteins Gs and Gq/11.

4. Mutations of the Human Thyrotropin Receptor Gene Causing Thyroid Hypoplasia and Persistent Congenital Hypothyroidism

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