Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene-Reference-Cited by-同舟云学术

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Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene

Published:2015-01-01 Issue:5-6 Volume:28 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Satoh Mari,Aso Keiko,Ogikubo Sayaka,Yoshizawa-Ogasawara Atsuko,Saji Tsutomu

Abstract

AbstractSubjects who are heterozygous for

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2014-0078/pdf

Reference42 articles.

1. The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations : a genotype - phenotype correlation;Sriphrapradang;J Clin Endocrinol Metab,2011

2. novel homozygous missense mutation of the dual oxidase gene in an adult patient with large goier;Ohye;Thyroid,2008

3. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor;Park;Clin Endocrinol,2004

4. Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia;Calebiro;J Clin Endocrinol Metab,2012

5. Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin;Nagashima;Thyroid,2001

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