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SAT-286 TSH Synthesis and Secretion Are Unperturbed in Male IRS4 Knockout Mice

It was recently reported that mutations in the insulin receptor substrate 4 (IRS4) gene cause a novel form of X-linked congenital central hypothyroidism (OMIM 300904). To date, four different mutations, three frameshift and one nonsense, have been reported, with two affected male patients showing de...

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Detalles Bibliográficos
Autores principales: Brule, Emilie, Boelen, Anita, Bernard, Daniel J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207422/
http://dx.doi.org/10.1210/jendso/bvaa046.101