OR15-4 Long-Term Follow-Up of a Female with a Mutation in the Estrogen Receptor Alpha (ESR1) Gene

We previously reported the first female with a mutation in the ESR1 gene encoding estrogen receptor-α (ER-α), which dramatically reduced estrogen signaling in vitro. She presented at 17(9/12) years with absent breast development, markedly elevated serum estradiol and estrone levels, modestly high go...

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Detalles Bibliográficos
Autores principales: Brakta, Soumia, Chorich, Lynn, Kim, Hyung-Goo, Coons, Laurel, Hall, Janet, Korach, Kenneth, Layman, Lawrence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554796/
http://dx.doi.org/10.1210/js.2019-OR15-4

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