Article
Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.
The Journal of clinical endocrinology and metabolism - 1 Jan 2017
Bernard Valérie, Kherra Sakina, Francou Bruno, Fagart Jérôme, Viengchareun Say, Guéchot Jérôme, Ladjouze Asmahane, Guiochon-Mantel Anne, Korach Kenneth S, Binart Nadine, Lombès Marc, Christin-Maitre Sophie
Abstract excerpt
Context: Estrogens influence many physiological processes in mammals, including reproduction. Estrogen peripheral actions are mainly mediated through estrogen receptors (ERs) α and β, encoded by ESR1 and ESR2 genes, respectively. Objective: The study's aim was to describe a family in which 3 members presented with estrogen insensitivity. Design and Setting: Clinical evaluation and genetic and mutational analysis...
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