Article
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 2009
Godi Michela, Mellone Simona, Petri Antonella, Arrigo Teresa, Bardelli Claudio, Corrado Lucia, Bellone Simonetta, Prodam Flavia, Momigliano-Richiardi Patricia, Bona Gianni, Giordano Mara
Abstract excerpt
CONTEXT: Mutations in the GHRH receptor (GHRHR) have been detected in the familial type-IB isolated GH deficiency (IGHD-IB) inherited as an autosomal recessive disorder and characterized by a low but detectable serum GH level and good response to substitutive GH therapy. OBJECTIVE: The aim of our study was the identification of mutations in sporadic patients with a IGHD-IB phenotype. SUBJECTS AND METHODS: The...
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