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Article

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

The Journal of clinical endocrinology and metabolism - 1 Sept 2012

Gianetti Elena, Hall Janet E, Au Margaret G, Kaiser Ursula B, Quinton Richard, Stewart Jane A, Metzger Daniel L, Pitteloud Nelly, Mericq Veronica, Merino Paulina M, Levitsky Lynne L, Izatt Louise, Lang-Muritano Mariarosaria, Fujimoto Victor Y, Dluhy Robert G, Chase Matthew L, Crowley William F, Plummer Lacey, Seminara Stephanie B

Abstract excerpt

CONTEXT: A broad spectrum of GnRH-deficient phenotypes has been identified in individuals with both mono- and biallelic GNRHR mutations. OBJECTIVE: The objective of the study was to determine the correlation between the severity of the reproductive phenotype(s) and the number and functional sever...

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Source

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Identifiers

PMID: 22745237
DOI: 10.1210/jc.2012-1264
PMCID: PMC3431570

Genes

GNRHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22745237-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).PMID 22745237Read ↗

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