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Genetics of GH Deficiency: Insights From a Cohort of 203 Patients

24 Jun 2025

Abstract excerpt

CONTEXT: GH deficiency is a rare disorder characterized by severe short stature, which can result from genetic mutations affecting hypothalamic-pituitary development and function. OBJECTIVE: To determine the genetic basis of GH deficiency in a Portuguese cohort. DESIGN, SETTING, PATIENTS: Multicenter cohort of 203 GH-deficient patients (78 with isolated GH deficiency and 125 with combined pituitary hormone...

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Share to Genetic Syndromes and Imprinting
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PMID: 40554621
DOI: 10.1210/clinem/dgaf377

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