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Article

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.

The New England journal of medicine - 20 Oct 1994

Smith E P, Boyd J, Frank G R, Takahashi H, Cohen R M, Specker B, Williams T C, Lubahn D B, Korach K S

Abstract excerpt

BACKGROUND AND METHODS: Mutations in the estrogen-receptor gene have been thought to be lethal. A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months. Estrogen-receptor DNA, extracted from lymphocytes, was evaluated by analysis of...

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Source

Identifiers

PMID: 8090165
DOI: 10.1056/NEJM199410203311604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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