Heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance, characterized by isolated nonautoimmune hyperthyrotropinemia (NAHT). The prevalence and management of this condition is controversial.

Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia / Calebiro, Davide; Gelmini, Giulia; Cordella, Daniela; Bonomi, Marco; Winkler, Franziska; Biebermann, Heike; de Marco, Alessandro; Marelli, Federica; V Libri, Domenico; Antonica, Francesco; Cristina Vigone, Maria; Cappa, Marco; Mian, Caterina; Sartorio, Alessandro; Beck-Peccoz, Paolo; Radetti, Giorgio; Weber, Giovanna; Persani, Luca. - In: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. - ISSN 0021-972X. - 97:1(2012), pp. 156-160. [10.1210/jc.2011-1938]

Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia

Francesco Antonica;
2012-01-01

Abstract

Heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance, characterized by isolated nonautoimmune hyperthyrotropinemia (NAHT). The prevalence and management of this condition is controversial.
2012
1
Calebiro, Davide; Gelmini, Giulia; Cordella, Daniela; Bonomi, Marco; Winkler, Franziska; Biebermann, Heike; de Marco, Alessandro; Marelli, Federica; V...espandi
Frequent TSH receptor genetic alterations with variable signaling impairment in a large series of children with nonautoimmune isolated hyperthyrotropinemia / Calebiro, Davide; Gelmini, Giulia; Cordella, Daniela; Bonomi, Marco; Winkler, Franziska; Biebermann, Heike; de Marco, Alessandro; Marelli, Federica; V Libri, Domenico; Antonica, Francesco; Cristina Vigone, Maria; Cappa, Marco; Mian, Caterina; Sartorio, Alessandro; Beck-Peccoz, Paolo; Radetti, Giorgio; Weber, Giovanna; Persani, Luca. - In: THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM. - ISSN 0021-972X. - 97:1(2012), pp. 156-160. [10.1210/jc.2011-1938]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11572/352841
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