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Genetic Screening of Combined Pituitary Hormone Deficiency: Experience in 195 Patients

31 May 2006

Abstract excerpt

CONTEXT: Mutations in transcription factors result in combined pituitary hormone deficiency (CPHD). OBJECTIVE: A genetic screening strategy, based on endocrine and neuroradiological phenotype according to published knowledge, was applied to establish the prevalence of gene defects in each category of patients and provide a useful framework for clinicians to determine the genetic etiology and recurrence risks for...

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PMID: 16735499
DOI: 10.1210/jc.2005-2173

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