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Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion

Cerqueira, Taise Lima Oliveira ; Carré, Aurore ; Chevrier, Lucie ; Szinnai, Gabor ; Tron, Elodie ; Léger, Juliane ; Cabrol, Sylvie ; Queinnec, Chrystelle ; De Roux, Nicolas ; Castanet, Mireille ; Polak, Michel ; Ramos, Helton Estrela

In: Journal of Pediatric Endocrinology and Metabolism, 2015, vol. 28, no. 7-8, p. 777-784