A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the 'Hot' Region in the THRB Gene

Autor:	Jacopo Manso, Susi Barollo, Simona Censi, Caterina Mian, Alfonso Massimiliano Ferrara, Sara Watutantrige-Fernando
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	Adult Male Thyroid Hormone Resistance Syndrome endocrine system medicine.medical_specialty endocrine system diseases Endocrinology Diabetes and Metabolism Thyrotropin 030209 endocrinology & metabolism Biology medicine.disease_cause Hyperthyroidism RTHβ Thyroid hormone receptor beta 03 medical and health sciences 0302 clinical medicine Endocrinology HOT Region Internal medicine medicine Humans Beta (finance) Child Gene Aged Family Health Mutation Goiter Thyroid High serum THRB gene Thyroid Hormone Receptors beta Middle Aged Pedigree medicine.anatomical_structure 030220 oncology & carcinogenesis novel mutation Female Hormone
Popis:	Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by high serum levels of thyroid hormone and unsuppressed serum thyrotropin concentrations. RTHβ is caused by mutations in the thyroid hormone receptor beta (THRB) gene, which are mostly clustered in three "hot" regions along the gene. Here, a report is given on a family with RTHβ caused by a novel mutation in the THRB gene (c.1069 GC, p.G357R) occurring outside the historically known "hot" regions.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d02cc8c4fb57a67ad7eaa29303bfd6a http://hdl.handle.net/11577/3302839 Zobrazit plný text záznamu