Sporadic Congenital Hyperthyroidism due to a Germline Mutation in the Thyrotropin Receptor Gene (Leu 512 Gln) in a Japanese Patient-Reference-Cited by-同舟云学术

Sporadic Congenital Hyperthyroidism due to a Germline Mutation in the Thyrotropin Receptor Gene (Leu 512 Gln) in a Japanese Patient

Published:2006 Issue:6 Volume:53 Page:735-740
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

NISHIHARA Eijun¹,FUKATA Shuji¹,HISHINUMA Akira²,KUDO Takumi¹,OHYE Hidemi¹,ITO Mitsuru¹,KUBOTA Sumihisa¹,AMINO Nobuyuki¹,KUMA Kanji¹,MIYAUCHI Akira¹

Affiliation:

1. Kuma Hospital

2. Department of Clinical Laboratory Medicine, Dokkyo University School of Medicine

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/53/6/53_6_735/_pdf

Reference27 articles.

1. 1. Zakarija M, McKenzie JM (1983) Pregnancy-associated changes in the thyroid-stimulating antibody of Graves' disease and the relationship to neonatal hyperthyroidism. J Clin Endocrinol Metab 57: 1036-1040.

2. Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

3. Congenital Hyperthyroidism Caused by a Mutation in the Thyrotropin-Receptor Gene

4. 4. de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, Misrahi M (1996) A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J Clin Endocrinol Metab 81: 2023-2026.

5. 5. Fuhrer D, Mix M, Willgerodt H, Holzapfel HP, Von Petrykowski W, Wonerow P, Paschke R (1998) Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy. Exp Clin Endocrinol Diabetes 106: S10-15.

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