Article
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.
The Journal of clinical endocrinology and metabolism - 1 Sept 2011
França Marcela M, Jorge Alexander A L, Alatzoglou Kyriaki S, Carvalho Luciani R S, Mendonca Berenice B, Audi Laura, Carrascosa Antonio, Dattani Mehul T, Arnhold Ivo J P
Abstract excerpt
CONTEXT: Although numerous reports of mutations in GH1 and GHRHR (GHRH receptor) causing isolated GH deficiency (IGHD) have been published, mutations in GHRH itself have not been hitherto reported but are obvious candidates for GH deficiency. OBJECTIVE: The aim of this study was to identify mutations in GHRH in a large cohort of patients with IGHD. PATIENTS AND METHODS: DNA was isolated from 151 patients...
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