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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Brakta, Soumia, Chorich, Lynn, Kim, Hyung-Goo, Coons, Laurel, Hall, Janet, Korach, Kenneth, Layman, Lawrence
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Endocrine Society 2019
Gaiak:
Genetics and Development (including Gene Regulation)
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554796/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR15-4
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak