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Article

Impact on bone of an estrogen receptor-alpha gene loss of function mutation.

The Journal of clinical endocrinology and metabolism - 1 Aug 2008

Smith Eric P, Specker Bonny, Bachrach Bert E, Kimbro K S, Li X J, Young Marian F, Fedarko Neal S, Abuzzahab M J, Frank Graeme R, Cohen Robert M, Lubahn Dennis B, Korach Kenneth S

Abstract excerpt

CONTEXT: The kindred described is the only known instance of a germ line loss of function mutation of estrogen receptor (ER)-alpha. OBJECTIVE: Our objective was to assess the impact of a loss of function mutation in the ER-alpha gene on histomorphometry, bone volumetric density, bone geometry and...

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Identifiers

PMID: 18505767
DOI: 10.1210/jc.2007-2397
PMCID: PMC2729204

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18505767-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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