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Article

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

Science translational medicine - 19 May 2010

Sykiotis Gerasimos P, Pitteloud Nelly, Seminara Stephanie B, Kaiser Ursula B, Crowley William F

Abstract excerpt

Isolated gonadotropin-releasing hormone (GnRH) deficiency is a treatable albeit rare form of reproductive failure that has revealed physiological mechanisms controlling human reproduction, but despite substantial progress in discovering pathogenic single-gene defects, most of the genetic basis of GnRH deficiency remains uncharted. Although unbiased genetic investigations of affected families have identified...

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Identifiers

PMID: 20484732
DOI: 10.1126/scitranslmed.3000288
PMCID: PMC3936248

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