Article
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.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2015
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
Abstract excerpt
CONTEXT: Thyroid dysgenesis may be associated with loss-of-function mutations in the thyrotropin receptor (TSHR) gene. OBJECTIVES: The aim of this study was to characterize a novel TSHR gene variant found in one patient harboring congenital hypothyroidism (CH) from a cohort of patients with various types of thyroid defects. MATERIALS AND METHODS: This cross-sectional cohort study involved 118 patients with CH and...
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